Canonical Allele Identifier: CA2692219487

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522001-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522001C>T , CM000671.2:g.131522001C>T	GRCh38
NC_000009.11:g.134397388C>T , CM000671.1:g.134397388C>T	GRCh37
NC_000009.10:g.133387209C>T	NCBI36
NG_008896.1:g.24100C>T
NG_008896.2:g.24100C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1664-46C>T	ENSP00000343034.7:n.1664-46C>T
ENST00000404875.7:n.2366-46C>T
ENST00000423007.6:c.1883-46C>T	ENSP00000404119.2:n.1883-46C>T
ENST00000677295.2:c.*2170-46C>T	ENSP00000504346.2:n.*2170-46C>T
ENST00000678264.2:c.*2009-46C>T	ENSP00000503157.2:n.*2009-46C>T
ENST00000682070.1:n.2291-201C>T
ENST00000682813.1:n.2230-46C>T
ENST00000683392.1:n.4573-201C>T
ENST00000683712.1:n.2231-46C>T
ENST00000683900.1:n.3726-46C>T
ENST00000684062.1:n.2492-46C>T
ENST00000684579.1:n.3672-46C>T
ENST00000684679.1:n.1053-46C>T
ENST00000341012.12:c.1664-46C>T	ENSP00000343034.7:n.1664-46C>T
ENST00000372220.5:c.695-46C>T	ENSP00000361294.5:n.695-46C>T
ENST00000372228.9:c.1892-46C>T	ENSP00000361302.3:n.1892-46C>T
ENST00000402686.8:c.1826-46C>T MANE Select	ENSP00000385797.4:n.1826-46C>T
ENST00000676640.1:c.1826-46C>T	ENSP00000503281.1:n.1826-46C>T
ENST00000676803.1:c.887-46C>T	ENSP00000503093.1:n.887-46C>T
ENST00000676835.1:c.*1041-46C>T	ENSP00000502911.1:n.*1041-46C>T
ENST00000677029.1:c.1370-46C>T	ENSP00000502936.1:n.1370-46C>T
ENST00000677099.1:c.*1536-46C>T	ENSP00000504553.1:n.*1536-46C>T
ENST00000677216.1:c.1475-46C>T	ENSP00000503772.1:n.1475-46C>T
ENST00000677221.1:n.851-46C>T
ENST00000677295.1:c.*1203-201C>T	ENSP00000504346.1:n.*1203-201C>T
ENST00000677444.1:c.1771-46C>T
ENST00000677586.1:n.1193-46C>T
ENST00000677626.1:c.1475-46C>T	ENSP00000503552.1:n.1475-46C>T
ENST00000677853.1:c.*834-46C>T	ENSP00000503488.1:n.*834-46C>T
ENST00000678202.1:n.985-46C>T
ENST00000678264.1:c.*1203-46C>T	ENSP00000503157.1:n.*1203-46C>T
ENST00000678303.1:c.1736-46C>T	ENSP00000503696.1:n.1736-46C>T
ENST00000678366.1:c.*2075-46C>T	ENSP00000504353.1:n.*2075-46C>T
ENST00000678546.1:c.*1771-46C>T	ENSP00000503062.1:n.*1771-46C>T
ENST00000678548.1:c.*1919C>T	ENSP00000503934.1:n.*1919C>T
ENST00000678626.1:n.1662-46C>T
ENST00000678739.1:c.*2147-201C>T	ENSP00000503806.1:n.*2147-201C>T
ENST00000678833.1:c.*1578-46C>T	ENSP00000503893.1:n.*1578-46C>T
ENST00000679023.1:c.1664-46C>T	ENSP00000503718.1:n.1664-46C>T
ENST00000679076.1:c.1445-46C>T
ENST00000679111.1:c.*582-46C>T	ENSP00000504257.1:n.*582-46C>T
ENST00000679189.1:c.1475-46C>T	ENSP00000503356.1:n.1475-46C>T
ENST00000341012.11:c.1664-46C>T	ENSP00000343034.7:n.1664-46C>T
ENST00000372220.4:c.689-46C>T	ENSP00000361294.4:n.689-46C>T
ENST00000372228.7:c.1892-46C>T	ENSP00000361302.3:n.1892-46C>T
ENST00000402686.7:c.1826-46C>T	ENSP00000385797.3:n.1826-46C>T
ENST00000404875.6:c.1475-46C>T	ENSP00000384531.2:n.1475-46C>T
ENST00000423007.5:c.1826-46C>T	ENSP00000404119.1:n.1826-46C>T
ENST00000485278.5:n.2376-46C>T
ENST00000494883.1:n.369-46C>T
NM_001077365.1:c.1826-46C>T	NP_001070833.1:n.1826-46C>T
NM_001077366.1:c.1664-46C>T	NP_001070834.1:n.1664-46C>T
NM_001136113.1:c.1826-46C>T	NP_001129585.1:n.1826-46C>T
NM_001136114.1:c.1475-46C>T	NP_001129586.1:n.1475-46C>T
NM_007171.3:c.1892-46C>T	NP_009102.3:n.1892-46C>T
XM_005272156.1:c.1892-46C>T	XP_005272213.1:n.1892-46C>T
XM_005272158.1:c.1730-46C>T	XP_005272215.1:n.1730-46C>T
XM_005272159.1:c.1541-46C>T	XP_005272216.1:n.1541-46C>T
XM_005272162.1:c.695-46C>T	XP_005272219.1:n.695-46C>T
XM_006716932.1:c.1541-46C>T	XP_006716995.1:n.1541-46C>T
XM_011518140.1:c.1745-46C>T	XP_011516442.1:n.1745-46C>T
XM_011518141.1:c.1679-46C>T	XP_011516443.1:n.1679-46C>T
XM_011518142.1:c.1583-46C>T	XP_011516444.1:n.1583-46C>T
XM_011518143.1:c.1577-46C>T	XP_011516445.1:n.1577-46C>T
XM_011518145.1:c.1436-46C>T	XP_011516447.1:n.1436-46C>T
XM_011518147.1:c.764-46C>T	XP_011516449.1:n.764-46C>T
XR_929703.1:n.2068-46C>T
NM_001353193.1:c.1892-46C>T	NP_001340122.1:n.1892-46C>T
NM_001353194.1:c.1664-46C>T	NP_001340123.1:n.1664-46C>T
NM_001353195.1:c.1475-46C>T	NP_001340124.1:n.1475-46C>T
NM_001353196.1:c.1736-46C>T	NP_001340125.1:n.1736-46C>T
NM_001353197.1:c.1730-46C>T	NP_001340126.1:n.1730-46C>T
NM_001353198.1:c.1730-46C>T	NP_001340127.1:n.1730-46C>T
NM_001353199.1:c.1541-46C>T	NP_001340128.1:n.1541-46C>T
NM_001353200.1:c.1370-46C>T	NP_001340129.1:n.1370-46C>T
NR_148391.1:n.1876-46C>T
NR_148392.1:n.2094-46C>T
NR_148393.1:n.2015-46C>T
NR_148394.1:n.1769-46C>T
NR_148395.1:n.2167-46C>T
NR_148396.1:n.1801-46C>T
NR_148397.1:n.1926-46C>T
NR_148398.1:n.1881-46C>T
NR_148399.1:n.2407-46C>T
NR_148400.1:n.2006-46C>T
XM_005272162.3:c.695-46C>T	XP_005272219.1:n.695-46C>T
XM_006716932.2:c.1541-46C>T	XP_006716995.1:n.1541-46C>T
XM_011518140.2:c.1745-46C>T	XP_011516442.1:n.1745-46C>T
XM_011518141.2:c.1679-46C>T	XP_011516443.1:n.1679-46C>T
XM_011518142.2:c.1583-46C>T	XP_011516444.1:n.1583-46C>T
XM_011518143.2:c.1577-46C>T	XP_011516445.1:n.1577-46C>T
XM_011518145.2:c.1436-46C>T	XP_011516447.1:n.1436-46C>T
XM_017014205.2:c.695-46C>T	XP_016869694.1:n.695-46C>T
XM_024447380.1:c.695-46C>T	XP_024303148.1:n.695-46C>T
XM_024447381.1:c.1001-46C>T	XP_024303149.1:n.1001-46C>T
XM_024447382.1:c.695-46C>T	XP_024303150.1:n.695-46C>T
XR_001746160.2:n.1996-46C>T
XR_001746162.2:n.2201-46C>T
XR_001746164.1:n.1918-46C>T
XR_001746166.2:n.2213-46C>T
NM_001077365.2:c.1826-46C>T MANE Select	NP_001070833.1:n.1826-46C>T
NM_001077366.2:c.1664-46C>T	NP_001070834.1:n.1664-46C>T
NM_001136113.2:c.1826-46C>T	NP_001129585.1:n.1826-46C>T
NM_001136114.2:c.1475-46C>T	NP_001129586.1:n.1475-46C>T
NM_001353193.2:c.1892-46C>T	NP_001340122.2:n.1892-46C>T
NM_001353194.2:c.1664-46C>T	NP_001340123.1:n.1664-46C>T
NM_001353195.2:c.1475-46C>T	NP_001340124.1:n.1475-46C>T
NM_001353196.2:c.1736-46C>T	NP_001340125.1:n.1736-46C>T
NM_001353197.2:c.1730-46C>T	NP_001340126.2:n.1730-46C>T
NM_001353198.2:c.1730-46C>T	NP_001340127.2:n.1730-46C>T
NM_001353199.2:c.1541-46C>T	NP_001340128.2:n.1541-46C>T
NM_001353200.2:c.1370-46C>T	NP_001340129.1:n.1370-46C>T
NM_001374689.1:c.1814-46C>T	NP_001361618.1:n.1814-46C>T
NM_001374690.1:c.1607-46C>T	NP_001361619.1:n.1607-46C>T
NM_001374691.1:c.1475-46C>T	NP_001361620.1:n.1475-46C>T
NM_001374692.1:c.1475-46C>T	NP_001361621.1:n.1475-46C>T
NM_001374693.1:c.1475-46C>T	NP_001361622.1:n.1475-46C>T
NM_001374695.1:c.1436-46C>T	NP_001361624.1:n.1436-46C>T
NM_007171.4:c.1892-46C>T	NP_009102.4:n.1892-46C>T
NR_148391.2:n.1860-46C>T
NR_148392.2:n.2078-46C>T
NR_148393.2:n.1999-46C>T
NR_148394.2:n.1753-46C>T
NR_148395.2:n.2151-46C>T
NR_148396.2:n.1785-46C>T
NR_148397.2:n.1910-46C>T
NR_148398.2:n.1865-46C>T
NR_148399.2:n.2391-46C>T
NR_148400.2:n.1990-46C>T