Canonical Allele Identifier: CA467424005

Gene: POMT1

Linked Data

• dbSNP Id: rs1306235186
• gnomAD v2: 9-134397444-G-A
• gnomAD v4: 9-131522057-G-A
• MyVariant Identifiers: chr9:g.134397444G>A (hg19) ; chr9:g.131522057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522057G>A , CM000671.2:g.131522057G>A	GRCh38
NC_000009.11:g.134397444G>A , CM000671.1:g.134397444G>A	GRCh37
NC_000009.10:g.133387265G>A	NCBI36
NG_008896.1:g.24156G>A
NG_008896.2:g.24156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1674G>A	ENSP00000343034.7:p.Leu558=
ENST00000404875.7:n.2376G>A
ENST00000423007.6:c.1893G>A	ENSP00000404119.2:p.Leu631=
ENST00000677295.2:c.*2180G>A	ENSP00000504346.2:n.*2180G>A
ENST00000678264.2:c.*2019G>A	ENSP00000503157.2:n.*2019G>A
ENST00000682070.1:n.2291-145G>A
ENST00000682813.1:n.2240G>A
ENST00000683392.1:n.4573-145G>A
ENST00000683712.1:n.2241G>A
ENST00000683900.1:n.3736G>A
ENST00000684062.1:n.2502G>A
ENST00000684579.1:n.3682G>A
ENST00000684679.1:n.1063G>A
ENST00000341012.12:c.1674G>A	ENSP00000343034.7:p.Leu558=
ENST00000372220.5:c.705G>A	ENSP00000361294.5:p.Leu235=
ENST00000372228.9:c.1902G>A	ENSP00000361302.3:p.Leu634=
ENST00000402686.8:c.1836G>A MANE Select	ENSP00000385797.4:p.Leu612=
ENST00000676640.1:c.1836G>A	ENSP00000503281.1:p.Leu612=
ENST00000676803.1:c.897G>A	ENSP00000503093.1:p.Leu299=
ENST00000676835.1:c.*1051G>A	ENSP00000502911.1:n.*1051G>A
ENST00000677029.1:c.1380G>A	ENSP00000502936.1:p.Leu460=
ENST00000677099.1:c.*1546G>A	ENSP00000504553.1:n.*1546G>A
ENST00000677216.1:c.1485G>A	ENSP00000503772.1:p.Leu495=
ENST00000677221.1:n.861G>A
ENST00000677295.1:c.*1203-145G>A	ENSP00000504346.1:n.*1203-145G>A
ENST00000677444.1:c.1781G>A
ENST00000677586.1:n.1203G>A
ENST00000677626.1:c.1485G>A	ENSP00000503552.1:p.Leu495=
ENST00000677853.1:c.*844G>A	ENSP00000503488.1:n.*844G>A
ENST00000678202.1:n.995G>A
ENST00000678264.1:c.*1213G>A	ENSP00000503157.1:n.*1213G>A
ENST00000678303.1:c.1746G>A	ENSP00000503696.1:p.Leu582=
ENST00000678366.1:c.*2085G>A	ENSP00000504353.1:n.*2085G>A
ENST00000678546.1:c.*1781G>A	ENSP00000503062.1:n.*1781G>A
ENST00000678548.1:c.*1975G>A	ENSP00000503934.1:n.*1975G>A
ENST00000678626.1:n.1672G>A
ENST00000678739.1:c.*2147-145G>A	ENSP00000503806.1:n.*2147-145G>A
ENST00000678833.1:c.*1588G>A	ENSP00000503893.1:n.*1588G>A
ENST00000679023.1:c.1674G>A	ENSP00000503718.1:p.Leu558=
ENST00000679076.1:c.1455G>A
ENST00000679111.1:c.*592G>A	ENSP00000504257.1:n.*592G>A
ENST00000679189.1:c.1485G>A	ENSP00000503356.1:p.Leu495=
ENST00000341012.11:c.1674G>A	ENSP00000343034.7:p.Leu558=
ENST00000372220.4:c.699G>A	ENSP00000361294.4:p.Leu233=
ENST00000372228.7:c.1902G>A	ENSP00000361302.3:p.Leu634=
ENST00000402686.7:c.1836G>A	ENSP00000385797.3:p.Leu612=
ENST00000404875.6:c.1485G>A	ENSP00000384531.2:p.Leu495=
ENST00000423007.5:c.1836G>A	ENSP00000404119.1:p.Leu612=
ENST00000485278.5:n.2386G>A
ENST00000494883.1:n.379G>A
NM_001077365.1:c.1836G>A	NP_001070833.1:p.Leu612=
NM_001077366.1:c.1674G>A	NP_001070834.1:p.Leu558=
NM_001136113.1:c.1836G>A	NP_001129585.1:p.Leu612=
NM_001136114.1:c.1485G>A	NP_001129586.1:p.Leu495=
NM_007171.3:c.1902G>A	NP_009102.3:p.Leu634=
XM_005272156.1:c.1902G>A	XP_005272213.1:p.Leu634=
XM_005272158.1:c.1740G>A	XP_005272215.1:p.Leu580=
XM_005272159.1:c.1551G>A	XP_005272216.1:p.Leu517=
XM_005272162.1:c.705G>A	XP_005272219.1:p.Leu235=
XM_006716932.1:c.1551G>A	XP_006716995.1:p.Leu517=
XM_011518140.1:c.1755G>A	XP_011516442.1:p.Leu585=
XM_011518141.1:c.1689G>A	XP_011516443.1:p.Leu563=
XM_011518142.1:c.1593G>A	XP_011516444.1:p.Leu531=
XM_011518143.1:c.1587G>A	XP_011516445.1:p.Leu529=
XM_011518145.1:c.1446G>A	XP_011516447.1:p.Leu482=
XM_011518147.1:c.774G>A	XP_011516449.1:p.Leu258=
XR_929703.1:n.2078G>A
NM_001353193.1:c.1902G>A	NP_001340122.1:p.Leu634=
NM_001353194.1:c.1674G>A	NP_001340123.1:p.Leu558=
NM_001353195.1:c.1485G>A	NP_001340124.1:p.Leu495=
NM_001353196.1:c.1746G>A	NP_001340125.1:p.Leu582=
NM_001353197.1:c.1740G>A	NP_001340126.1:p.Leu580=
NM_001353198.1:c.1740G>A	NP_001340127.1:p.Leu580=
NM_001353199.1:c.1551G>A	NP_001340128.1:p.Leu517=
NM_001353200.1:c.1380G>A	NP_001340129.1:p.Leu460=
NR_148391.1:n.1886G>A
NR_148392.1:n.2104G>A
NR_148393.1:n.2025G>A
NR_148394.1:n.1779G>A
NR_148395.1:n.2177G>A
NR_148396.1:n.1811G>A
NR_148397.1:n.1936G>A
NR_148398.1:n.1891G>A
NR_148399.1:n.2417G>A
NR_148400.1:n.2016G>A
XM_005272162.3:c.705G>A	XP_005272219.1:p.Leu235=
XM_006716932.2:c.1551G>A	XP_006716995.1:p.Leu517=
XM_011518140.2:c.1755G>A	XP_011516442.1:p.Leu585=
XM_011518141.2:c.1689G>A	XP_011516443.1:p.Leu563=
XM_011518142.2:c.1593G>A	XP_011516444.1:p.Leu531=
XM_011518143.2:c.1587G>A	XP_011516445.1:p.Leu529=
XM_011518145.2:c.1446G>A	XP_011516447.1:p.Leu482=
XM_017014205.2:c.705G>A	XP_016869694.1:p.Leu235=
XM_024447380.1:c.705G>A	XP_024303148.1:p.Leu235=
XM_024447381.1:c.1011G>A	XP_024303149.1:p.Leu337=
XM_024447382.1:c.705G>A	XP_024303150.1:p.Leu235=
XR_001746160.2:n.2006G>A
XR_001746162.2:n.2211G>A
XR_001746164.1:n.1928G>A
XR_001746166.2:n.2223G>A
NM_001077365.2:c.1836G>A MANE Select	NP_001070833.1:p.Leu612=
NM_001077366.2:c.1674G>A	NP_001070834.1:p.Leu558=
NM_001136113.2:c.1836G>A	NP_001129585.1:p.Leu612=
NM_001136114.2:c.1485G>A	NP_001129586.1:p.Leu495=
NM_001353193.2:c.1902G>A	NP_001340122.2:p.Leu634=
NM_001353194.2:c.1674G>A	NP_001340123.1:p.Leu558=
NM_001353195.2:c.1485G>A	NP_001340124.1:p.Leu495=
NM_001353196.2:c.1746G>A	NP_001340125.1:p.Leu582=
NM_001353197.2:c.1740G>A	NP_001340126.2:p.Leu580=
NM_001353198.2:c.1740G>A	NP_001340127.2:p.Leu580=
NM_001353199.2:c.1551G>A	NP_001340128.2:p.Leu517=
NM_001353200.2:c.1380G>A	NP_001340129.1:p.Leu460=
NM_001374689.1:c.1824G>A	NP_001361618.1:p.Leu608=
NM_001374690.1:c.1617G>A	NP_001361619.1:p.Leu539=
NM_001374691.1:c.1485G>A	NP_001361620.1:p.Leu495=
NM_001374692.1:c.1485G>A	NP_001361621.1:p.Leu495=
NM_001374693.1:c.1485G>A	NP_001361622.1:p.Leu495=
NM_001374695.1:c.1446G>A	NP_001361624.1:p.Leu482=
NM_007171.4:c.1902G>A	NP_009102.4:p.Leu634=
NR_148391.2:n.1870G>A
NR_148392.2:n.2088G>A
NR_148393.2:n.2009G>A
NR_148394.2:n.1763G>A
NR_148395.2:n.2161G>A
NR_148396.2:n.1795G>A
NR_148397.2:n.1920G>A
NR_148398.2:n.1875G>A
NR_148399.2:n.2401G>A
NR_148400.2:n.2000G>A