Canonical Allele Identifier: CA375315486

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398478G>C (hg19) ; chr9:g.131523091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523091G>C , CM000671.2:g.131523091G>C	GRCh38
NC_000009.11:g.134398478G>C , CM000671.1:g.134398478G>C	GRCh37
NC_000009.10:g.133388299G>C	NCBI36
NG_008896.1:g.25190G>C
NG_008896.2:g.25190G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2001G>C	ENSP00000343034.7:p.Leu667Phe
ENST00000404875.7:n.2703G>C
ENST00000423007.6:c.2220G>C	ENSP00000404119.2:p.Leu740Phe
ENST00000677295.2:c.*2507G>C	ENSP00000504346.2:n.*2507G>C
ENST00000678264.2:c.*2346G>C	ENSP00000503157.2:n.*2346G>C
ENST00000682070.1:n.2473G>C
ENST00000682639.1:c.160G>C
ENST00000682813.1:n.2560G>C
ENST00000683231.1:c.160G>C
ENST00000683392.1:n.4755G>C
ENST00000683712.1:n.2568G>C
ENST00000683900.1:n.4063G>C
ENST00000684062.1:n.2829G>C
ENST00000684399.1:c.160G>C
ENST00000684579.1:n.4009G>C
ENST00000341012.12:c.2001G>C	ENSP00000343034.7:p.Leu667Phe
ENST00000372220.5:c.1032G>C	ENSP00000361294.5:p.Leu344Phe
ENST00000372228.9:c.2229G>C	ENSP00000361302.3:p.Leu743Phe
ENST00000402686.8:c.2163G>C MANE Select	ENSP00000385797.4:p.Leu721Phe
ENST00000676640.1:c.2163G>C	ENSP00000503281.1:p.Leu721Phe
ENST00000676803.1:c.1224G>C	ENSP00000503093.1:p.Leu408Phe
ENST00000676835.1:c.*1378G>C	ENSP00000502911.1:n.*1378G>C
ENST00000677029.1:c.1707G>C	ENSP00000502936.1:p.Leu569Phe
ENST00000677099.1:c.*1873G>C	ENSP00000504553.1:n.*1873G>C
ENST00000677216.1:c.1812G>C	ENSP00000503772.1:p.Leu604Phe
ENST00000677295.1:c.*1385G>C	ENSP00000504346.1:n.*1385G>C
ENST00000677444.1:c.2108G>C
ENST00000677586.1:n.1530G>C
ENST00000677626.1:c.1812G>C	ENSP00000503552.1:p.Leu604Phe
ENST00000677853.1:c.*1171G>C	ENSP00000503488.1:n.*1171G>C
ENST00000678264.1:c.*1540G>C	ENSP00000503157.1:n.*1540G>C
ENST00000678303.1:c.2073G>C	ENSP00000503696.1:p.Leu691Phe
ENST00000678366.1:c.*2412G>C	ENSP00000504353.1:n.*2412G>C
ENST00000678546.1:c.*2108G>C	ENSP00000503062.1:n.*2108G>C
ENST00000678548.1:c.*2302G>C	ENSP00000503934.1:n.*2302G>C
ENST00000678626.1:n.1999G>C
ENST00000678739.1:c.*2329G>C	ENSP00000503806.1:n.*2329G>C
ENST00000678833.1:c.*1915G>C	ENSP00000503893.1:n.*1915G>C
ENST00000679023.1:c.2001G>C	ENSP00000503718.1:p.Leu667Phe
ENST00000679076.1:c.1782G>C
ENST00000679111.1:c.*919G>C	ENSP00000504257.1:n.*919G>C
ENST00000679189.1:c.1812G>C	ENSP00000503356.1:p.Leu604Phe
ENST00000341012.11:c.2001G>C	ENSP00000343034.7:p.Leu667Phe
ENST00000372220.4:c.1026G>C	ENSP00000361294.4:p.Leu342Phe
ENST00000372228.7:c.2229G>C	ENSP00000361302.3:p.Leu743Phe
ENST00000402686.7:c.2163G>C	ENSP00000385797.3:p.Leu721Phe
ENST00000404875.6:c.1812G>C	ENSP00000384531.2:p.Leu604Phe
ENST00000423007.5:c.2163G>C	ENSP00000404119.1:p.Leu721Phe
ENST00000485278.5:n.2713G>C
NM_001077365.1:c.2163G>C	NP_001070833.1:p.Leu721Phe
NM_001077366.1:c.2001G>C	NP_001070834.1:p.Leu667Phe
NM_001136113.1:c.2163G>C	NP_001129585.1:p.Leu721Phe
NM_001136114.1:c.1812G>C	NP_001129586.1:p.Leu604Phe
NM_007171.3:c.2229G>C	NP_009102.3:p.Leu743Phe
XM_005272156.1:c.2229G>C	XP_005272213.1:p.Leu743Phe
XM_005272158.1:c.2067G>C	XP_005272215.1:p.Leu689Phe
XM_005272159.1:c.1878G>C	XP_005272216.1:p.Leu626Phe
XM_005272162.1:c.1032G>C	XP_005272219.1:p.Leu344Phe
XM_006716932.1:c.1878G>C	XP_006716995.1:p.Leu626Phe
XM_011518140.1:c.2082G>C	XP_011516442.1:p.Leu694Phe
XM_011518141.1:c.2016G>C	XP_011516443.1:p.Leu672Phe
XM_011518142.1:c.1920G>C	XP_011516444.1:p.Leu640Phe
XM_011518143.1:c.1914G>C	XP_011516445.1:p.Leu638Phe
XM_011518145.1:c.1773G>C	XP_011516447.1:p.Leu591Phe
XM_011518147.1:c.1101G>C	XP_011516449.1:p.Leu367Phe
XR_929703.1:n.2405G>C
NM_001353193.1:c.2229G>C	NP_001340122.1:p.Leu743Phe
NM_001353194.1:c.2001G>C	NP_001340123.1:p.Leu667Phe
NM_001353195.1:c.1812G>C	NP_001340124.1:p.Leu604Phe
NM_001353196.1:c.2073G>C	NP_001340125.1:p.Leu691Phe
NM_001353197.1:c.2067G>C	NP_001340126.1:p.Leu689Phe
NM_001353198.1:c.2067G>C	NP_001340127.1:p.Leu689Phe
NM_001353199.1:c.1878G>C	NP_001340128.1:p.Leu626Phe
NM_001353200.1:c.1707G>C	NP_001340129.1:p.Leu569Phe
NR_148391.1:n.2213G>C
NR_148392.1:n.2431G>C
NR_148393.1:n.2352G>C
NR_148394.1:n.2106G>C
NR_148395.1:n.2504G>C
NR_148396.1:n.2138G>C
NR_148397.1:n.2263G>C
NR_148398.1:n.2218G>C
NR_148399.1:n.2744G>C
NR_148400.1:n.2343G>C
XM_005272162.3:c.1032G>C	XP_005272219.1:p.Leu344Phe
XM_006716932.2:c.1878G>C	XP_006716995.1:p.Leu626Phe
XM_011518140.2:c.2082G>C	XP_011516442.1:p.Leu694Phe
XM_011518141.2:c.2016G>C	XP_011516443.1:p.Leu672Phe
XM_011518142.2:c.1920G>C	XP_011516444.1:p.Leu640Phe
XM_011518143.2:c.1914G>C	XP_011516445.1:p.Leu638Phe
XM_011518145.2:c.1773G>C	XP_011516447.1:p.Leu591Phe
XM_017014205.2:c.1032G>C	XP_016869694.1:p.Leu344Phe
XM_024447380.1:c.1032G>C	XP_024303148.1:p.Leu344Phe
XM_024447381.1:c.1338G>C	XP_024303149.1:p.Leu446Phe
XM_024447382.1:c.1032G>C	XP_024303150.1:p.Leu344Phe
XR_001746160.2:n.2333G>C
XR_001746162.2:n.2538G>C
XR_001746164.1:n.2255G>C
XR_001746166.2:n.2550G>C
NM_001077365.2:c.2163G>C MANE Select	NP_001070833.1:p.Leu721Phe
NM_001077366.2:c.2001G>C	NP_001070834.1:p.Leu667Phe
NM_001136113.2:c.2163G>C	NP_001129585.1:p.Leu721Phe
NM_001136114.2:c.1812G>C	NP_001129586.1:p.Leu604Phe
NM_001353193.2:c.2229G>C	NP_001340122.2:p.Leu743Phe
NM_001353194.2:c.2001G>C	NP_001340123.1:p.Leu667Phe
NM_001353195.2:c.1812G>C	NP_001340124.1:p.Leu604Phe
NM_001353196.2:c.2073G>C	NP_001340125.1:p.Leu691Phe
NM_001353197.2:c.2067G>C	NP_001340126.2:p.Leu689Phe
NM_001353198.2:c.2067G>C	NP_001340127.2:p.Leu689Phe
NM_001353199.2:c.1878G>C	NP_001340128.2:p.Leu626Phe
NM_001353200.2:c.1707G>C	NP_001340129.1:p.Leu569Phe
NM_001374689.1:c.2151G>C	NP_001361618.1:p.Leu717Phe
NM_001374690.1:c.1944G>C	NP_001361619.1:p.Leu648Phe
NM_001374691.1:c.1812G>C	NP_001361620.1:p.Leu604Phe
NM_001374692.1:c.1812G>C	NP_001361621.1:p.Leu604Phe
NM_001374693.1:c.1812G>C	NP_001361622.1:p.Leu604Phe
NM_001374695.1:c.1773G>C	NP_001361624.1:p.Leu591Phe
NM_007171.4:c.2229G>C	NP_009102.4:p.Leu743Phe
NR_148391.2:n.2197G>C
NR_148392.2:n.2415G>C
NR_148393.2:n.2336G>C
NR_148394.2:n.2090G>C
NR_148395.2:n.2488G>C
NR_148396.2:n.2122G>C
NR_148397.2:n.2247G>C
NR_148398.2:n.2202G>C
NR_148399.2:n.2728G>C
NR_148400.2:n.2327G>C