Canonical Allele Identifier: CA467424219

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1087249
• ClinVar RCV Id: RCV001405288
• dbSNP Id: rs2131947484
• MyVariant Identifiers: chr9:g.134398442C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523055C>A , CM000671.2:g.131523055C>A	GRCh38
NC_000009.11:g.134398442C>A , CM000671.1:g.134398442C>A	GRCh37
NC_000009.10:g.133388263C>A	NCBI36
NG_008896.1:g.25154C>A
NG_008896.2:g.25154C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1965C>A	ENSP00000343034.7:p.Leu655=
ENST00000404875.7:n.2667C>A
ENST00000423007.6:c.2184C>A	ENSP00000404119.2:p.Leu728=
ENST00000677295.2:c.*2471C>A	ENSP00000504346.2:n.*2471C>A
ENST00000678264.2:c.*2310C>A	ENSP00000503157.2:n.*2310C>A
ENST00000682070.1:n.2437C>A
ENST00000682639.1:c.124C>A
ENST00000682813.1:n.2524C>A
ENST00000683231.1:c.124C>A
ENST00000683392.1:n.4719C>A
ENST00000683712.1:n.2532C>A
ENST00000683900.1:n.4027C>A
ENST00000684062.1:n.2793C>A
ENST00000684399.1:c.124C>A
ENST00000684579.1:n.3973C>A
ENST00000341012.12:c.1965C>A	ENSP00000343034.7:p.Leu655=
ENST00000372220.5:c.996C>A	ENSP00000361294.5:p.Leu332=
ENST00000372228.9:c.2193C>A	ENSP00000361302.3:p.Leu731=
ENST00000402686.8:c.2127C>A MANE Select	ENSP00000385797.4:p.Leu709=
ENST00000676640.1:c.2127C>A	ENSP00000503281.1:p.Leu709=
ENST00000676803.1:c.1188C>A	ENSP00000503093.1:p.Leu396=
ENST00000676835.1:c.*1342C>A	ENSP00000502911.1:n.*1342C>A
ENST00000677029.1:c.1671C>A	ENSP00000502936.1:p.Leu557=
ENST00000677099.1:c.*1837C>A	ENSP00000504553.1:n.*1837C>A
ENST00000677216.1:c.1776C>A	ENSP00000503772.1:p.Leu592=
ENST00000677295.1:c.*1349C>A	ENSP00000504346.1:n.*1349C>A
ENST00000677444.1:c.2072C>A
ENST00000677586.1:n.1494C>A
ENST00000677626.1:c.1776C>A	ENSP00000503552.1:p.Leu592=
ENST00000677853.1:c.*1135C>A	ENSP00000503488.1:n.*1135C>A
ENST00000678264.1:c.*1504C>A	ENSP00000503157.1:n.*1504C>A
ENST00000678303.1:c.2037C>A	ENSP00000503696.1:p.Leu679=
ENST00000678366.1:c.*2376C>A	ENSP00000504353.1:n.*2376C>A
ENST00000678546.1:c.*2072C>A	ENSP00000503062.1:n.*2072C>A
ENST00000678548.1:c.*2266C>A	ENSP00000503934.1:n.*2266C>A
ENST00000678626.1:n.1963C>A
ENST00000678739.1:c.*2293C>A	ENSP00000503806.1:n.*2293C>A
ENST00000678833.1:c.*1879C>A	ENSP00000503893.1:n.*1879C>A
ENST00000679023.1:c.1965C>A	ENSP00000503718.1:p.Leu655=
ENST00000679076.1:c.1746C>A
ENST00000679111.1:c.*883C>A	ENSP00000504257.1:n.*883C>A
ENST00000679189.1:c.1776C>A	ENSP00000503356.1:p.Leu592=
ENST00000341012.11:c.1965C>A	ENSP00000343034.7:p.Leu655=
ENST00000372220.4:c.990C>A	ENSP00000361294.4:p.Leu330=
ENST00000372228.7:c.2193C>A	ENSP00000361302.3:p.Leu731=
ENST00000402686.7:c.2127C>A	ENSP00000385797.3:p.Leu709=
ENST00000404875.6:c.1776C>A	ENSP00000384531.2:p.Leu592=
ENST00000423007.5:c.2127C>A	ENSP00000404119.1:p.Leu709=
ENST00000485278.5:n.2677C>A
NM_001077365.1:c.2127C>A	NP_001070833.1:p.Leu709=
NM_001077366.1:c.1965C>A	NP_001070834.1:p.Leu655=
NM_001136113.1:c.2127C>A	NP_001129585.1:p.Leu709=
NM_001136114.1:c.1776C>A	NP_001129586.1:p.Leu592=
NM_007171.3:c.2193C>A	NP_009102.3:p.Leu731=
XM_005272156.1:c.2193C>A	XP_005272213.1:p.Leu731=
XM_005272158.1:c.2031C>A	XP_005272215.1:p.Leu677=
XM_005272159.1:c.1842C>A	XP_005272216.1:p.Leu614=
XM_005272162.1:c.996C>A	XP_005272219.1:p.Leu332=
XM_006716932.1:c.1842C>A	XP_006716995.1:p.Leu614=
XM_011518140.1:c.2046C>A	XP_011516442.1:p.Leu682=
XM_011518141.1:c.1980C>A	XP_011516443.1:p.Leu660=
XM_011518142.1:c.1884C>A	XP_011516444.1:p.Leu628=
XM_011518143.1:c.1878C>A	XP_011516445.1:p.Leu626=
XM_011518145.1:c.1737C>A	XP_011516447.1:p.Leu579=
XM_011518147.1:c.1065C>A	XP_011516449.1:p.Leu355=
XR_929703.1:n.2369C>A
NM_001353193.1:c.2193C>A	NP_001340122.1:p.Leu731=
NM_001353194.1:c.1965C>A	NP_001340123.1:p.Leu655=
NM_001353195.1:c.1776C>A	NP_001340124.1:p.Leu592=
NM_001353196.1:c.2037C>A	NP_001340125.1:p.Leu679=
NM_001353197.1:c.2031C>A	NP_001340126.1:p.Leu677=
NM_001353198.1:c.2031C>A	NP_001340127.1:p.Leu677=
NM_001353199.1:c.1842C>A	NP_001340128.1:p.Leu614=
NM_001353200.1:c.1671C>A	NP_001340129.1:p.Leu557=
NR_148391.1:n.2177C>A
NR_148392.1:n.2395C>A
NR_148393.1:n.2316C>A
NR_148394.1:n.2070C>A
NR_148395.1:n.2468C>A
NR_148396.1:n.2102C>A
NR_148397.1:n.2227C>A
NR_148398.1:n.2182C>A
NR_148399.1:n.2708C>A
NR_148400.1:n.2307C>A
XM_005272162.3:c.996C>A	XP_005272219.1:p.Leu332=
XM_006716932.2:c.1842C>A	XP_006716995.1:p.Leu614=
XM_011518140.2:c.2046C>A	XP_011516442.1:p.Leu682=
XM_011518141.2:c.1980C>A	XP_011516443.1:p.Leu660=
XM_011518142.2:c.1884C>A	XP_011516444.1:p.Leu628=
XM_011518143.2:c.1878C>A	XP_011516445.1:p.Leu626=
XM_011518145.2:c.1737C>A	XP_011516447.1:p.Leu579=
XM_017014205.2:c.996C>A	XP_016869694.1:p.Leu332=
XM_024447380.1:c.996C>A	XP_024303148.1:p.Leu332=
XM_024447381.1:c.1302C>A	XP_024303149.1:p.Leu434=
XM_024447382.1:c.996C>A	XP_024303150.1:p.Leu332=
XR_001746160.2:n.2297C>A
XR_001746162.2:n.2502C>A
XR_001746164.1:n.2219C>A
XR_001746166.2:n.2514C>A
NM_001077365.2:c.2127C>A MANE Select	NP_001070833.1:p.Leu709=
NM_001077366.2:c.1965C>A	NP_001070834.1:p.Leu655=
NM_001136113.2:c.2127C>A	NP_001129585.1:p.Leu709=
NM_001136114.2:c.1776C>A	NP_001129586.1:p.Leu592=
NM_001353193.2:c.2193C>A	NP_001340122.2:p.Leu731=
NM_001353194.2:c.1965C>A	NP_001340123.1:p.Leu655=
NM_001353195.2:c.1776C>A	NP_001340124.1:p.Leu592=
NM_001353196.2:c.2037C>A	NP_001340125.1:p.Leu679=
NM_001353197.2:c.2031C>A	NP_001340126.2:p.Leu677=
NM_001353198.2:c.2031C>A	NP_001340127.2:p.Leu677=
NM_001353199.2:c.1842C>A	NP_001340128.2:p.Leu614=
NM_001353200.2:c.1671C>A	NP_001340129.1:p.Leu557=
NM_001374689.1:c.2115C>A	NP_001361618.1:p.Leu705=
NM_001374690.1:c.1908C>A	NP_001361619.1:p.Leu636=
NM_001374691.1:c.1776C>A	NP_001361620.1:p.Leu592=
NM_001374692.1:c.1776C>A	NP_001361621.1:p.Leu592=
NM_001374693.1:c.1776C>A	NP_001361622.1:p.Leu592=
NM_001374695.1:c.1737C>A	NP_001361624.1:p.Leu579=
NM_007171.4:c.2193C>A	NP_009102.4:p.Leu731=
NR_148391.2:n.2161C>A
NR_148392.2:n.2379C>A
NR_148393.2:n.2300C>A
NR_148394.2:n.2054C>A
NR_148395.2:n.2452C>A
NR_148396.2:n.2086C>A
NR_148397.2:n.2211C>A
NR_148398.2:n.2166C>A
NR_148399.2:n.2692C>A
NR_148400.2:n.2291C>A