Canonical Allele Identifier: CA467423471

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393919T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518532T>C , CM000671.2:g.131518532T>C	GRCh38
NC_000009.11:g.134393919T>C , CM000671.1:g.134393919T>C	GRCh37
NC_000009.10:g.133383740T>C	NCBI36
NG_008896.1:g.20631T>C
NG_008896.2:g.20631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1198T>C	ENSP00000343034.7:p.Leu400=
ENST00000404875.7:n.1900T>C
ENST00000423007.6:c.1417T>C	ENSP00000404119.2:p.Leu473=
ENST00000677295.2:c.*1704T>C	ENSP00000504346.2:n.*1704T>C
ENST00000678264.2:c.*1543T>C	ENSP00000503157.2:n.*1543T>C
ENST00000682070.1:n.1825T>C
ENST00000682535.1:n.132T>C
ENST00000682539.1:c.298T>C
ENST00000682813.1:n.1625T>C
ENST00000683110.1:n.88T>C
ENST00000683392.1:n.4107T>C
ENST00000683712.1:n.1765T>C
ENST00000683900.1:n.3260T>C
ENST00000684062.1:n.2026T>C
ENST00000684579.1:n.3206T>C
ENST00000684679.1:n.587T>C
ENST00000341012.12:c.1198T>C	ENSP00000343034.7:p.Leu400=
ENST00000372220.5:c.229T>C	ENSP00000361294.5:p.Leu77=
ENST00000372228.9:c.1426T>C	ENSP00000361302.3:p.Leu476=
ENST00000402686.8:c.1360T>C MANE Select	ENSP00000385797.4:p.Leu454=
ENST00000676640.1:c.1360T>C	ENSP00000503281.1:p.Leu454=
ENST00000676803.1:c.535T>C	ENSP00000503093.1:p.Leu179=
ENST00000676835.1:c.*575T>C	ENSP00000502911.1:n.*575T>C
ENST00000677029.1:c.904T>C	ENSP00000502936.1:p.Leu302=
ENST00000677099.1:c.*1070T>C	ENSP00000504553.1:n.*1070T>C
ENST00000677216.1:c.1009T>C	ENSP00000503772.1:p.Leu337=
ENST00000677221.1:n.385T>C
ENST00000677295.1:c.*737T>C	ENSP00000504346.1:n.*737T>C
ENST00000677444.1:c.1166T>C
ENST00000677586.1:n.841T>C
ENST00000677626.1:c.1009T>C	ENSP00000503552.1:p.Leu337=
ENST00000677677.1:n.1320T>C
ENST00000677853.1:c.*368T>C	ENSP00000503488.1:n.*368T>C
ENST00000677983.1:n.449T>C
ENST00000678202.1:n.380T>C
ENST00000678264.1:c.*737T>C	ENSP00000503157.1:n.*737T>C
ENST00000678303.1:c.1270T>C	ENSP00000503696.1:p.Leu424=
ENST00000678366.1:c.*1609T>C	ENSP00000504353.1:n.*1609T>C
ENST00000678546.1:c.*1305T>C	ENSP00000503062.1:n.*1305T>C
ENST00000678548.1:c.*1432T>C	ENSP00000503934.1:n.*1432T>C
ENST00000678626.1:n.1057T>C
ENST00000678733.1:c.441T>C
ENST00000678739.1:c.*1686T>C	ENSP00000503806.1:n.*1686T>C
ENST00000678795.1:n.447T>C
ENST00000678833.1:c.*807T>C	ENSP00000503893.1:n.*807T>C
ENST00000678942.1:c.540T>C	ENSP00000504690.1:n.540T>C
ENST00000679023.1:c.1198T>C	ENSP00000503718.1:p.Leu400=
ENST00000679076.1:c.979T>C
ENST00000679111.1:c.1360T>C	ENSP00000504257.1:p.Leu454=
ENST00000679189.1:c.1009T>C	ENSP00000503356.1:p.Leu337=
ENST00000341012.11:c.1198T>C	ENSP00000343034.7:p.Leu400=
ENST00000372220.4:c.223T>C	ENSP00000361294.4:p.Leu75=
ENST00000372228.7:c.1426T>C	ENSP00000361302.3:p.Leu476=
ENST00000402686.7:c.1360T>C	ENSP00000385797.3:p.Leu454=
ENST00000404875.6:c.1009T>C	ENSP00000384531.2:p.Leu337=
ENST00000423007.5:c.1360T>C	ENSP00000404119.1:p.Leu454=
ENST00000485278.5:n.1915T>C
NM_001077365.1:c.1360T>C	NP_001070833.1:p.Leu454=
NM_001077366.1:c.1198T>C	NP_001070834.1:p.Leu400=
NM_001136113.1:c.1360T>C	NP_001129585.1:p.Leu454=
NM_001136114.1:c.1009T>C	NP_001129586.1:p.Leu337=
NM_007171.3:c.1426T>C	NP_009102.3:p.Leu476=
XM_005272156.1:c.1426T>C	XP_005272213.1:p.Leu476=
XM_005272158.1:c.1264T>C	XP_005272215.1:p.Leu422=
XM_005272159.1:c.1075T>C	XP_005272216.1:p.Leu359=
XM_005272162.1:c.229T>C	XP_005272219.1:p.Leu77=
XM_006716932.1:c.1075T>C	XP_006716995.1:p.Leu359=
XM_011518140.1:c.1279T>C	XP_011516442.1:p.Leu427=
XM_011518141.1:c.1213T>C	XP_011516443.1:p.Leu405=
XM_011518142.1:c.1117T>C	XP_011516444.1:p.Leu373=
XM_011518143.1:c.1111T>C	XP_011516445.1:p.Leu371=
XM_011518144.1:c.1426T>C	XP_011516446.1:p.Leu476=
XM_011518145.1:c.970T>C	XP_011516447.1:p.Leu324=
XM_011518146.1:c.1111T>C	XP_011516448.1:p.Leu371=
XM_011518147.1:c.298T>C	XP_011516449.1:p.Leu100=
XR_929703.1:n.1602T>C
NM_001353193.1:c.1426T>C	NP_001340122.1:p.Leu476=
NM_001353194.1:c.1198T>C	NP_001340123.1:p.Leu400=
NM_001353195.1:c.1009T>C	NP_001340124.1:p.Leu337=
NM_001353196.1:c.1270T>C	NP_001340125.1:p.Leu424=
NM_001353197.1:c.1264T>C	NP_001340126.1:p.Leu422=
NM_001353198.1:c.1264T>C	NP_001340127.1:p.Leu422=
NM_001353199.1:c.1075T>C	NP_001340128.1:p.Leu359=
NM_001353200.1:c.904T>C	NP_001340129.1:p.Leu302=
NR_148391.1:n.1410T>C
NR_148392.1:n.1628T>C
NR_148393.1:n.1410T>C
NR_148394.1:n.1303T>C
NR_148395.1:n.1562T>C
NR_148396.1:n.1196T>C
NR_148397.1:n.1460T>C
NR_148398.1:n.1415T>C
NR_148399.1:n.1802T>C
NR_148400.1:n.1401T>C
XM_005272162.3:c.229T>C	XP_005272219.1:p.Leu77=
XM_006716932.2:c.1075T>C	XP_006716995.1:p.Leu359=
XM_011518140.2:c.1279T>C	XP_011516442.1:p.Leu427=
XM_011518141.2:c.1213T>C	XP_011516443.1:p.Leu405=
XM_011518142.2:c.1117T>C	XP_011516444.1:p.Leu373=
XM_011518143.2:c.1111T>C	XP_011516445.1:p.Leu371=
XM_011518145.2:c.970T>C	XP_011516447.1:p.Leu324=
XM_017014205.2:c.229T>C	XP_016869694.1:p.Leu77=
XM_024447380.1:c.229T>C	XP_024303148.1:p.Leu77=
XM_024447381.1:c.535T>C	XP_024303149.1:p.Leu179=
XM_024447382.1:c.229T>C	XP_024303150.1:p.Leu77=
XR_001746160.2:n.1530T>C
XR_001746162.2:n.1596T>C
XR_001746164.1:n.1313T>C
XR_001746166.2:n.1747T>C
NM_001077365.2:c.1360T>C MANE Select	NP_001070833.1:p.Leu454=
NM_001077366.2:c.1198T>C	NP_001070834.1:p.Leu400=
NM_001136113.2:c.1360T>C	NP_001129585.1:p.Leu454=
NM_001136114.2:c.1009T>C	NP_001129586.1:p.Leu337=
NM_001353193.2:c.1426T>C	NP_001340122.2:p.Leu476=
NM_001353194.2:c.1198T>C	NP_001340123.1:p.Leu400=
NM_001353195.2:c.1009T>C	NP_001340124.1:p.Leu337=
NM_001353196.2:c.1270T>C	NP_001340125.1:p.Leu424=
NM_001353197.2:c.1264T>C	NP_001340126.2:p.Leu422=
NM_001353198.2:c.1264T>C	NP_001340127.2:p.Leu422=
NM_001353199.2:c.1075T>C	NP_001340128.2:p.Leu359=
NM_001353200.2:c.904T>C	NP_001340129.1:p.Leu302=
NM_001374689.1:c.1348T>C	NP_001361618.1:p.Leu450=
NM_001374690.1:c.1360T>C	NP_001361619.1:p.Leu454=
NM_001374691.1:c.1009T>C	NP_001361620.1:p.Leu337=
NM_001374692.1:c.1009T>C	NP_001361621.1:p.Leu337=
NM_001374693.1:c.1009T>C	NP_001361622.1:p.Leu337=
NM_001374695.1:c.970T>C	NP_001361624.1:p.Leu324=
NM_007171.4:c.1426T>C	NP_009102.4:p.Leu476=
NR_148391.2:n.1394T>C
NR_148392.2:n.1612T>C
NR_148393.2:n.1394T>C
NR_148394.2:n.1287T>C
NR_148395.2:n.1546T>C
NR_148396.2:n.1180T>C
NR_148397.2:n.1444T>C
NR_148398.2:n.1399T>C
NR_148399.2:n.1786T>C
NR_148400.2:n.1385T>C