Canonical Allele Identifier: CA375311408

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393893T>C (hg19) ; chr9:g.131518506T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518506T>C , CM000671.2:g.131518506T>C	GRCh38
NC_000009.11:g.134393893T>C , CM000671.1:g.134393893T>C	GRCh37
NC_000009.10:g.133383714T>C	NCBI36
NG_008896.1:g.20605T>C
NG_008896.2:g.20605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1172T>C	ENSP00000343034.7:p.Phe391Ser
ENST00000404875.7:n.1874T>C
ENST00000423007.6:c.1391T>C	ENSP00000404119.2:p.Phe464Ser
ENST00000677295.2:c.*1678T>C	ENSP00000504346.2:n.*1678T>C
ENST00000678264.2:c.*1517T>C	ENSP00000503157.2:n.*1517T>C
ENST00000682070.1:n.1799T>C
ENST00000682535.1:n.106T>C
ENST00000682539.1:c.272T>C
ENST00000682813.1:n.1599T>C
ENST00000683110.1:n.62T>C
ENST00000683392.1:n.4081T>C
ENST00000683712.1:n.1739T>C
ENST00000683900.1:n.3234T>C
ENST00000684062.1:n.2000T>C
ENST00000684579.1:n.3180T>C
ENST00000684679.1:n.561T>C
ENST00000341012.12:c.1172T>C	ENSP00000343034.7:p.Phe391Ser
ENST00000372220.5:c.203T>C	ENSP00000361294.5:p.Phe68Ser
ENST00000372228.9:c.1400T>C	ENSP00000361302.3:p.Phe467Ser
ENST00000402686.8:c.1334T>C MANE Select	ENSP00000385797.4:p.Phe445Ser
ENST00000676640.1:c.1334T>C	ENSP00000503281.1:p.Phe445Ser
ENST00000676803.1:c.509T>C	ENSP00000503093.1:p.Phe170Ser
ENST00000676835.1:c.*549T>C	ENSP00000502911.1:n.*549T>C
ENST00000677029.1:c.878T>C	ENSP00000502936.1:p.Phe293Ser
ENST00000677099.1:c.*1044T>C	ENSP00000504553.1:n.*1044T>C
ENST00000677216.1:c.983T>C	ENSP00000503772.1:p.Phe328Ser
ENST00000677221.1:n.359T>C
ENST00000677295.1:c.*711T>C	ENSP00000504346.1:n.*711T>C
ENST00000677444.1:c.1140T>C
ENST00000677586.1:n.815T>C
ENST00000677626.1:c.983T>C	ENSP00000503552.1:p.Phe328Ser
ENST00000677677.1:n.1294T>C
ENST00000677853.1:c.*342T>C	ENSP00000503488.1:n.*342T>C
ENST00000677983.1:n.423T>C
ENST00000678202.1:n.354T>C
ENST00000678264.1:c.*711T>C	ENSP00000503157.1:n.*711T>C
ENST00000678303.1:c.1244T>C	ENSP00000503696.1:p.Phe415Ser
ENST00000678366.1:c.*1583T>C	ENSP00000504353.1:n.*1583T>C
ENST00000678546.1:c.*1279T>C	ENSP00000503062.1:n.*1279T>C
ENST00000678548.1:c.*1406T>C	ENSP00000503934.1:n.*1406T>C
ENST00000678626.1:n.1031T>C
ENST00000678733.1:c.415T>C
ENST00000678739.1:c.*1660T>C	ENSP00000503806.1:n.*1660T>C
ENST00000678795.1:n.421T>C
ENST00000678833.1:c.*781T>C	ENSP00000503893.1:n.*781T>C
ENST00000678942.1:c.514T>C	ENSP00000504690.1:n.514T>C
ENST00000679023.1:c.1172T>C	ENSP00000503718.1:p.Phe391Ser
ENST00000679076.1:c.953T>C
ENST00000679111.1:c.1334T>C	ENSP00000504257.1:p.Phe445Ser
ENST00000679189.1:c.983T>C	ENSP00000503356.1:p.Phe328Ser
ENST00000341012.11:c.1172T>C	ENSP00000343034.7:p.Phe391Ser
ENST00000372220.4:c.197T>C	ENSP00000361294.4:p.Phe66Ser
ENST00000372228.7:c.1400T>C	ENSP00000361302.3:p.Phe467Ser
ENST00000402686.7:c.1334T>C	ENSP00000385797.3:p.Phe445Ser
ENST00000404875.6:c.983T>C	ENSP00000384531.2:p.Phe328Ser
ENST00000423007.5:c.1334T>C	ENSP00000404119.1:p.Phe445Ser
ENST00000485278.5:n.1889T>C
NM_001077365.1:c.1334T>C	NP_001070833.1:p.Phe445Ser
NM_001077366.1:c.1172T>C	NP_001070834.1:p.Phe391Ser
NM_001136113.1:c.1334T>C	NP_001129585.1:p.Phe445Ser
NM_001136114.1:c.983T>C	NP_001129586.1:p.Phe328Ser
NM_007171.3:c.1400T>C	NP_009102.3:p.Phe467Ser
XM_005272156.1:c.1400T>C	XP_005272213.1:p.Phe467Ser
XM_005272158.1:c.1238T>C	XP_005272215.1:p.Phe413Ser
XM_005272159.1:c.1049T>C	XP_005272216.1:p.Phe350Ser
XM_005272162.1:c.203T>C	XP_005272219.1:p.Phe68Ser
XM_006716932.1:c.1049T>C	XP_006716995.1:p.Phe350Ser
XM_011518140.1:c.1253T>C	XP_011516442.1:p.Phe418Ser
XM_011518141.1:c.1187T>C	XP_011516443.1:p.Phe396Ser
XM_011518142.1:c.1091T>C	XP_011516444.1:p.Phe364Ser
XM_011518143.1:c.1085T>C	XP_011516445.1:p.Phe362Ser
XM_011518144.1:c.1400T>C	XP_011516446.1:p.Phe467Ser
XM_011518145.1:c.944T>C	XP_011516447.1:p.Phe315Ser
XM_011518146.1:c.1085T>C	XP_011516448.1:p.Phe362Ser
XM_011518147.1:c.272T>C	XP_011516449.1:p.Phe91Ser
XR_929703.1:n.1576T>C
NM_001353193.1:c.1400T>C	NP_001340122.1:p.Phe467Ser
NM_001353194.1:c.1172T>C	NP_001340123.1:p.Phe391Ser
NM_001353195.1:c.983T>C	NP_001340124.1:p.Phe328Ser
NM_001353196.1:c.1244T>C	NP_001340125.1:p.Phe415Ser
NM_001353197.1:c.1238T>C	NP_001340126.1:p.Phe413Ser
NM_001353198.1:c.1238T>C	NP_001340127.1:p.Phe413Ser
NM_001353199.1:c.1049T>C	NP_001340128.1:p.Phe350Ser
NM_001353200.1:c.878T>C	NP_001340129.1:p.Phe293Ser
NR_148391.1:n.1384T>C
NR_148392.1:n.1602T>C
NR_148393.1:n.1384T>C
NR_148394.1:n.1277T>C
NR_148395.1:n.1536T>C
NR_148396.1:n.1170T>C
NR_148397.1:n.1434T>C
NR_148398.1:n.1389T>C
NR_148399.1:n.1776T>C
NR_148400.1:n.1375T>C
XM_005272162.3:c.203T>C	XP_005272219.1:p.Phe68Ser
XM_006716932.2:c.1049T>C	XP_006716995.1:p.Phe350Ser
XM_011518140.2:c.1253T>C	XP_011516442.1:p.Phe418Ser
XM_011518141.2:c.1187T>C	XP_011516443.1:p.Phe396Ser
XM_011518142.2:c.1091T>C	XP_011516444.1:p.Phe364Ser
XM_011518143.2:c.1085T>C	XP_011516445.1:p.Phe362Ser
XM_011518145.2:c.944T>C	XP_011516447.1:p.Phe315Ser
XM_017014205.2:c.203T>C	XP_016869694.1:p.Phe68Ser
XM_024447380.1:c.203T>C	XP_024303148.1:p.Phe68Ser
XM_024447381.1:c.509T>C	XP_024303149.1:p.Phe170Ser
XM_024447382.1:c.203T>C	XP_024303150.1:p.Phe68Ser
XR_001746160.2:n.1504T>C
XR_001746162.2:n.1570T>C
XR_001746164.1:n.1287T>C
XR_001746166.2:n.1721T>C
NM_001077365.2:c.1334T>C MANE Select	NP_001070833.1:p.Phe445Ser
NM_001077366.2:c.1172T>C	NP_001070834.1:p.Phe391Ser
NM_001136113.2:c.1334T>C	NP_001129585.1:p.Phe445Ser
NM_001136114.2:c.983T>C	NP_001129586.1:p.Phe328Ser
NM_001353193.2:c.1400T>C	NP_001340122.2:p.Phe467Ser
NM_001353194.2:c.1172T>C	NP_001340123.1:p.Phe391Ser
NM_001353195.2:c.983T>C	NP_001340124.1:p.Phe328Ser
NM_001353196.2:c.1244T>C	NP_001340125.1:p.Phe415Ser
NM_001353197.2:c.1238T>C	NP_001340126.2:p.Phe413Ser
NM_001353198.2:c.1238T>C	NP_001340127.2:p.Phe413Ser
NM_001353199.2:c.1049T>C	NP_001340128.2:p.Phe350Ser
NM_001353200.2:c.878T>C	NP_001340129.1:p.Phe293Ser
NM_001374689.1:c.1322T>C	NP_001361618.1:p.Phe441Ser
NM_001374690.1:c.1334T>C	NP_001361619.1:p.Phe445Ser
NM_001374691.1:c.983T>C	NP_001361620.1:p.Phe328Ser
NM_001374692.1:c.983T>C	NP_001361621.1:p.Phe328Ser
NM_001374693.1:c.983T>C	NP_001361622.1:p.Phe328Ser
NM_001374695.1:c.944T>C	NP_001361624.1:p.Phe315Ser
NM_007171.4:c.1400T>C	NP_009102.4:p.Phe467Ser
NR_148391.2:n.1368T>C
NR_148392.2:n.1586T>C
NR_148393.2:n.1368T>C
NR_148394.2:n.1261T>C
NR_148395.2:n.1520T>C
NR_148396.2:n.1154T>C
NR_148397.2:n.1418T>C
NR_148398.2:n.1373T>C
NR_148399.2:n.1760T>C
NR_148400.2:n.1359T>C