Canonical Allele Identifier: CA375314113

Gene: POMT1

Linked Data

• dbSNP Id: rs1950043255
• gnomAD v3: 9-131522050-C-T
• gnomAD v4: 9-131522050-C-T
• MyVariant Identifiers: chr9:g.134397437C>T (hg19) ; chr9:g.131522050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522050C>T , CM000671.2:g.131522050C>T	GRCh38
NC_000009.11:g.134397437C>T , CM000671.1:g.134397437C>T	GRCh37
NC_000009.10:g.133387258C>T	NCBI36
NG_008896.1:g.24149C>T
NG_008896.2:g.24149C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1667C>T	ENSP00000343034.7:p.Ala556Val
ENST00000404875.7:n.2369C>T
ENST00000423007.6:c.1886C>T	ENSP00000404119.2:p.Ala629Val
ENST00000677295.2:c.*2173C>T	ENSP00000504346.2:n.*2173C>T
ENST00000678264.2:c.*2012C>T	ENSP00000503157.2:n.*2012C>T
ENST00000682070.1:n.2291-152C>T
ENST00000682813.1:n.2233C>T
ENST00000683392.1:n.4573-152C>T
ENST00000683712.1:n.2234C>T
ENST00000683900.1:n.3729C>T
ENST00000684062.1:n.2495C>T
ENST00000684579.1:n.3675C>T
ENST00000684679.1:n.1056C>T
ENST00000341012.12:c.1667C>T	ENSP00000343034.7:p.Ala556Val
ENST00000372220.5:c.698C>T	ENSP00000361294.5:p.Ala233Val
ENST00000372228.9:c.1895C>T	ENSP00000361302.3:p.Ala632Val
ENST00000402686.8:c.1829C>T MANE Select	ENSP00000385797.4:p.Ala610Val
ENST00000676640.1:c.1829C>T	ENSP00000503281.1:p.Ala610Val
ENST00000676803.1:c.890C>T	ENSP00000503093.1:p.Ala297Val
ENST00000676835.1:c.*1044C>T	ENSP00000502911.1:n.*1044C>T
ENST00000677029.1:c.1373C>T	ENSP00000502936.1:p.Ala458Val
ENST00000677099.1:c.*1539C>T	ENSP00000504553.1:n.*1539C>T
ENST00000677216.1:c.1478C>T	ENSP00000503772.1:p.Ala493Val
ENST00000677221.1:n.854C>T
ENST00000677295.1:c.*1203-152C>T	ENSP00000504346.1:n.*1203-152C>T
ENST00000677444.1:c.1774C>T
ENST00000677586.1:n.1196C>T
ENST00000677626.1:c.1478C>T	ENSP00000503552.1:p.Ala493Val
ENST00000677853.1:c.*837C>T	ENSP00000503488.1:n.*837C>T
ENST00000678202.1:n.988C>T
ENST00000678264.1:c.*1206C>T	ENSP00000503157.1:n.*1206C>T
ENST00000678303.1:c.1739C>T	ENSP00000503696.1:p.Ala580Val
ENST00000678366.1:c.*2078C>T	ENSP00000504353.1:n.*2078C>T
ENST00000678546.1:c.*1774C>T	ENSP00000503062.1:n.*1774C>T
ENST00000678548.1:c.*1968C>T	ENSP00000503934.1:n.*1968C>T
ENST00000678626.1:n.1665C>T
ENST00000678739.1:c.*2147-152C>T	ENSP00000503806.1:n.*2147-152C>T
ENST00000678833.1:c.*1581C>T	ENSP00000503893.1:n.*1581C>T
ENST00000679023.1:c.1667C>T	ENSP00000503718.1:p.Ala556Val
ENST00000679076.1:c.1448C>T
ENST00000679111.1:c.*585C>T	ENSP00000504257.1:n.*585C>T
ENST00000679189.1:c.1478C>T	ENSP00000503356.1:p.Ala493Val
ENST00000341012.11:c.1667C>T	ENSP00000343034.7:p.Ala556Val
ENST00000372220.4:c.692C>T	ENSP00000361294.4:p.Ala231Val
ENST00000372228.7:c.1895C>T	ENSP00000361302.3:p.Ala632Val
ENST00000402686.7:c.1829C>T	ENSP00000385797.3:p.Ala610Val
ENST00000404875.6:c.1478C>T	ENSP00000384531.2:p.Ala493Val
ENST00000423007.5:c.1829C>T	ENSP00000404119.1:p.Ala610Val
ENST00000485278.5:n.2379C>T
ENST00000494883.1:n.372C>T
NM_001077365.1:c.1829C>T	NP_001070833.1:p.Ala610Val
NM_001077366.1:c.1667C>T	NP_001070834.1:p.Ala556Val
NM_001136113.1:c.1829C>T	NP_001129585.1:p.Ala610Val
NM_001136114.1:c.1478C>T	NP_001129586.1:p.Ala493Val
NM_007171.3:c.1895C>T	NP_009102.3:p.Ala632Val
XM_005272156.1:c.1895C>T	XP_005272213.1:p.Ala632Val
XM_005272158.1:c.1733C>T	XP_005272215.1:p.Ala578Val
XM_005272159.1:c.1544C>T	XP_005272216.1:p.Ala515Val
XM_005272162.1:c.698C>T	XP_005272219.1:p.Ala233Val
XM_006716932.1:c.1544C>T	XP_006716995.1:p.Ala515Val
XM_011518140.1:c.1748C>T	XP_011516442.1:p.Ala583Val
XM_011518141.1:c.1682C>T	XP_011516443.1:p.Ala561Val
XM_011518142.1:c.1586C>T	XP_011516444.1:p.Ala529Val
XM_011518143.1:c.1580C>T	XP_011516445.1:p.Ala527Val
XM_011518145.1:c.1439C>T	XP_011516447.1:p.Ala480Val
XM_011518147.1:c.767C>T	XP_011516449.1:p.Ala256Val
XR_929703.1:n.2071C>T
NM_001353193.1:c.1895C>T	NP_001340122.1:p.Ala632Val
NM_001353194.1:c.1667C>T	NP_001340123.1:p.Ala556Val
NM_001353195.1:c.1478C>T	NP_001340124.1:p.Ala493Val
NM_001353196.1:c.1739C>T	NP_001340125.1:p.Ala580Val
NM_001353197.1:c.1733C>T	NP_001340126.1:p.Ala578Val
NM_001353198.1:c.1733C>T	NP_001340127.1:p.Ala578Val
NM_001353199.1:c.1544C>T	NP_001340128.1:p.Ala515Val
NM_001353200.1:c.1373C>T	NP_001340129.1:p.Ala458Val
NR_148391.1:n.1879C>T
NR_148392.1:n.2097C>T
NR_148393.1:n.2018C>T
NR_148394.1:n.1772C>T
NR_148395.1:n.2170C>T
NR_148396.1:n.1804C>T
NR_148397.1:n.1929C>T
NR_148398.1:n.1884C>T
NR_148399.1:n.2410C>T
NR_148400.1:n.2009C>T
XM_005272162.3:c.698C>T	XP_005272219.1:p.Ala233Val
XM_006716932.2:c.1544C>T	XP_006716995.1:p.Ala515Val
XM_011518140.2:c.1748C>T	XP_011516442.1:p.Ala583Val
XM_011518141.2:c.1682C>T	XP_011516443.1:p.Ala561Val
XM_011518142.2:c.1586C>T	XP_011516444.1:p.Ala529Val
XM_011518143.2:c.1580C>T	XP_011516445.1:p.Ala527Val
XM_011518145.2:c.1439C>T	XP_011516447.1:p.Ala480Val
XM_017014205.2:c.698C>T	XP_016869694.1:p.Ala233Val
XM_024447380.1:c.698C>T	XP_024303148.1:p.Ala233Val
XM_024447381.1:c.1004C>T	XP_024303149.1:p.Ala335Val
XM_024447382.1:c.698C>T	XP_024303150.1:p.Ala233Val
XR_001746160.2:n.1999C>T
XR_001746162.2:n.2204C>T
XR_001746164.1:n.1921C>T
XR_001746166.2:n.2216C>T
NM_001077365.2:c.1829C>T MANE Select	NP_001070833.1:p.Ala610Val
NM_001077366.2:c.1667C>T	NP_001070834.1:p.Ala556Val
NM_001136113.2:c.1829C>T	NP_001129585.1:p.Ala610Val
NM_001136114.2:c.1478C>T	NP_001129586.1:p.Ala493Val
NM_001353193.2:c.1895C>T	NP_001340122.2:p.Ala632Val
NM_001353194.2:c.1667C>T	NP_001340123.1:p.Ala556Val
NM_001353195.2:c.1478C>T	NP_001340124.1:p.Ala493Val
NM_001353196.2:c.1739C>T	NP_001340125.1:p.Ala580Val
NM_001353197.2:c.1733C>T	NP_001340126.2:p.Ala578Val
NM_001353198.2:c.1733C>T	NP_001340127.2:p.Ala578Val
NM_001353199.2:c.1544C>T	NP_001340128.2:p.Ala515Val
NM_001353200.2:c.1373C>T	NP_001340129.1:p.Ala458Val
NM_001374689.1:c.1817C>T	NP_001361618.1:p.Ala606Val
NM_001374690.1:c.1610C>T	NP_001361619.1:p.Ala537Val
NM_001374691.1:c.1478C>T	NP_001361620.1:p.Ala493Val
NM_001374692.1:c.1478C>T	NP_001361621.1:p.Ala493Val
NM_001374693.1:c.1478C>T	NP_001361622.1:p.Ala493Val
NM_001374695.1:c.1439C>T	NP_001361624.1:p.Ala480Val
NM_007171.4:c.1895C>T	NP_009102.4:p.Ala632Val
NR_148391.2:n.1863C>T
NR_148392.2:n.2081C>T
NR_148393.2:n.2002C>T
NR_148394.2:n.1756C>T
NR_148395.2:n.2154C>T
NR_148396.2:n.1788C>T
NR_148397.2:n.1913C>T
NR_148398.2:n.1868C>T
NR_148399.2:n.2394C>T
NR_148400.2:n.1993C>T