Canonical Allele Identifier: CA375314105

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397434A>T (hg19) ; chr9:g.131522047A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522047A>T , CM000671.2:g.131522047A>T	GRCh38
NC_000009.11:g.134397434A>T , CM000671.1:g.134397434A>T	GRCh37
NC_000009.10:g.133387255A>T	NCBI36
NG_008896.1:g.24146A>T
NG_008896.2:g.24146A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1664A>T	ENSP00000343034.7:p.Asp555Val
ENST00000404875.7:n.2366A>T
ENST00000423007.6:c.1883A>T	ENSP00000404119.2:p.Asp628Val
ENST00000677295.2:c.*2170A>T	ENSP00000504346.2:n.*2170A>T
ENST00000678264.2:c.*2009A>T	ENSP00000503157.2:n.*2009A>T
ENST00000682070.1:n.2291-155A>T
ENST00000682813.1:n.2230A>T
ENST00000683392.1:n.4573-155A>T
ENST00000683712.1:n.2231A>T
ENST00000683900.1:n.3726A>T
ENST00000684062.1:n.2492A>T
ENST00000684579.1:n.3672A>T
ENST00000684679.1:n.1053A>T
ENST00000341012.12:c.1664A>T	ENSP00000343034.7:p.Asp555Val
ENST00000372220.5:c.695A>T	ENSP00000361294.5:p.Asp232Val
ENST00000372228.9:c.1892A>T	ENSP00000361302.3:p.Asp631Val
ENST00000402686.8:c.1826A>T MANE Select	ENSP00000385797.4:p.Asp609Val
ENST00000676640.1:c.1826A>T	ENSP00000503281.1:p.Asp609Val
ENST00000676803.1:c.887A>T	ENSP00000503093.1:p.Asp296Val
ENST00000676835.1:c.*1041A>T	ENSP00000502911.1:n.*1041A>T
ENST00000677029.1:c.1370A>T	ENSP00000502936.1:p.Asp457Val
ENST00000677099.1:c.*1536A>T	ENSP00000504553.1:n.*1536A>T
ENST00000677216.1:c.1475A>T	ENSP00000503772.1:p.Asp492Val
ENST00000677221.1:n.851A>T
ENST00000677295.1:c.*1203-155A>T	ENSP00000504346.1:n.*1203-155A>T
ENST00000677444.1:c.1771A>T
ENST00000677586.1:n.1193A>T
ENST00000677626.1:c.1475A>T	ENSP00000503552.1:p.Asp492Val
ENST00000677853.1:c.*834A>T	ENSP00000503488.1:n.*834A>T
ENST00000678202.1:n.985A>T
ENST00000678264.1:c.*1203A>T	ENSP00000503157.1:n.*1203A>T
ENST00000678303.1:c.1736A>T	ENSP00000503696.1:p.Asp579Val
ENST00000678366.1:c.*2075A>T	ENSP00000504353.1:n.*2075A>T
ENST00000678546.1:c.*1771A>T	ENSP00000503062.1:n.*1771A>T
ENST00000678548.1:c.*1965A>T	ENSP00000503934.1:n.*1965A>T
ENST00000678626.1:n.1662A>T
ENST00000678739.1:c.*2147-155A>T	ENSP00000503806.1:n.*2147-155A>T
ENST00000678833.1:c.*1578A>T	ENSP00000503893.1:n.*1578A>T
ENST00000679023.1:c.1664A>T	ENSP00000503718.1:p.Asp555Val
ENST00000679076.1:c.1445A>T
ENST00000679111.1:c.*582A>T	ENSP00000504257.1:n.*582A>T
ENST00000679189.1:c.1475A>T	ENSP00000503356.1:p.Asp492Val
ENST00000341012.11:c.1664A>T	ENSP00000343034.7:p.Asp555Val
ENST00000372220.4:c.689A>T	ENSP00000361294.4:p.Asp230Val
ENST00000372228.7:c.1892A>T	ENSP00000361302.3:p.Asp631Val
ENST00000402686.7:c.1826A>T	ENSP00000385797.3:p.Asp609Val
ENST00000404875.6:c.1475A>T	ENSP00000384531.2:p.Asp492Val
ENST00000423007.5:c.1826A>T	ENSP00000404119.1:p.Asp609Val
ENST00000485278.5:n.2376A>T
ENST00000494883.1:n.369A>T
NM_001077365.1:c.1826A>T	NP_001070833.1:p.Asp609Val
NM_001077366.1:c.1664A>T	NP_001070834.1:p.Asp555Val
NM_001136113.1:c.1826A>T	NP_001129585.1:p.Asp609Val
NM_001136114.1:c.1475A>T	NP_001129586.1:p.Asp492Val
NM_007171.3:c.1892A>T	NP_009102.3:p.Asp631Val
XM_005272156.1:c.1892A>T	XP_005272213.1:p.Asp631Val
XM_005272158.1:c.1730A>T	XP_005272215.1:p.Asp577Val
XM_005272159.1:c.1541A>T	XP_005272216.1:p.Asp514Val
XM_005272162.1:c.695A>T	XP_005272219.1:p.Asp232Val
XM_006716932.1:c.1541A>T	XP_006716995.1:p.Asp514Val
XM_011518140.1:c.1745A>T	XP_011516442.1:p.Asp582Val
XM_011518141.1:c.1679A>T	XP_011516443.1:p.Asp560Val
XM_011518142.1:c.1583A>T	XP_011516444.1:p.Asp528Val
XM_011518143.1:c.1577A>T	XP_011516445.1:p.Asp526Val
XM_011518145.1:c.1436A>T	XP_011516447.1:p.Asp479Val
XM_011518147.1:c.764A>T	XP_011516449.1:p.Asp255Val
XR_929703.1:n.2068A>T
NM_001353193.1:c.1892A>T	NP_001340122.1:p.Asp631Val
NM_001353194.1:c.1664A>T	NP_001340123.1:p.Asp555Val
NM_001353195.1:c.1475A>T	NP_001340124.1:p.Asp492Val
NM_001353196.1:c.1736A>T	NP_001340125.1:p.Asp579Val
NM_001353197.1:c.1730A>T	NP_001340126.1:p.Asp577Val
NM_001353198.1:c.1730A>T	NP_001340127.1:p.Asp577Val
NM_001353199.1:c.1541A>T	NP_001340128.1:p.Asp514Val
NM_001353200.1:c.1370A>T	NP_001340129.1:p.Asp457Val
NR_148391.1:n.1876A>T
NR_148392.1:n.2094A>T
NR_148393.1:n.2015A>T
NR_148394.1:n.1769A>T
NR_148395.1:n.2167A>T
NR_148396.1:n.1801A>T
NR_148397.1:n.1926A>T
NR_148398.1:n.1881A>T
NR_148399.1:n.2407A>T
NR_148400.1:n.2006A>T
XM_005272162.3:c.695A>T	XP_005272219.1:p.Asp232Val
XM_006716932.2:c.1541A>T	XP_006716995.1:p.Asp514Val
XM_011518140.2:c.1745A>T	XP_011516442.1:p.Asp582Val
XM_011518141.2:c.1679A>T	XP_011516443.1:p.Asp560Val
XM_011518142.2:c.1583A>T	XP_011516444.1:p.Asp528Val
XM_011518143.2:c.1577A>T	XP_011516445.1:p.Asp526Val
XM_011518145.2:c.1436A>T	XP_011516447.1:p.Asp479Val
XM_017014205.2:c.695A>T	XP_016869694.1:p.Asp232Val
XM_024447380.1:c.695A>T	XP_024303148.1:p.Asp232Val
XM_024447381.1:c.1001A>T	XP_024303149.1:p.Asp334Val
XM_024447382.1:c.695A>T	XP_024303150.1:p.Asp232Val
XR_001746160.2:n.1996A>T
XR_001746162.2:n.2201A>T
XR_001746164.1:n.1918A>T
XR_001746166.2:n.2213A>T
NM_001077365.2:c.1826A>T MANE Select	NP_001070833.1:p.Asp609Val
NM_001077366.2:c.1664A>T	NP_001070834.1:p.Asp555Val
NM_001136113.2:c.1826A>T	NP_001129585.1:p.Asp609Val
NM_001136114.2:c.1475A>T	NP_001129586.1:p.Asp492Val
NM_001353193.2:c.1892A>T	NP_001340122.2:p.Asp631Val
NM_001353194.2:c.1664A>T	NP_001340123.1:p.Asp555Val
NM_001353195.2:c.1475A>T	NP_001340124.1:p.Asp492Val
NM_001353196.2:c.1736A>T	NP_001340125.1:p.Asp579Val
NM_001353197.2:c.1730A>T	NP_001340126.2:p.Asp577Val
NM_001353198.2:c.1730A>T	NP_001340127.2:p.Asp577Val
NM_001353199.2:c.1541A>T	NP_001340128.2:p.Asp514Val
NM_001353200.2:c.1370A>T	NP_001340129.1:p.Asp457Val
NM_001374689.1:c.1814A>T	NP_001361618.1:p.Asp605Val
NM_001374690.1:c.1607A>T	NP_001361619.1:p.Asp536Val
NM_001374691.1:c.1475A>T	NP_001361620.1:p.Asp492Val
NM_001374692.1:c.1475A>T	NP_001361621.1:p.Asp492Val
NM_001374693.1:c.1475A>T	NP_001361622.1:p.Asp492Val
NM_001374695.1:c.1436A>T	NP_001361624.1:p.Asp479Val
NM_007171.4:c.1892A>T	NP_009102.4:p.Asp631Val
NR_148391.2:n.1860A>T
NR_148392.2:n.2078A>T
NR_148393.2:n.1999A>T
NR_148394.2:n.1753A>T
NR_148395.2:n.2151A>T
NR_148396.2:n.1785A>T
NR_148397.2:n.1910A>T
NR_148398.2:n.1865A>T
NR_148399.2:n.2391A>T
NR_148400.2:n.1990A>T