Canonical Allele Identifier: CA467424158

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398352G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522965G>T , CM000671.2:g.131522965G>T	GRCh38
NC_000009.11:g.134398352G>T , CM000671.1:g.134398352G>T	GRCh37
NC_000009.10:g.133388173G>T	NCBI36
NG_008896.1:g.25064G>T
NG_008896.2:g.25064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1875G>T	ENSP00000343034.7:p.Leu625=
ENST00000404875.7:n.2577G>T
ENST00000423007.6:c.2094G>T	ENSP00000404119.2:p.Leu698=
ENST00000677295.2:c.*2381G>T	ENSP00000504346.2:n.*2381G>T
ENST00000678264.2:c.*2220G>T	ENSP00000503157.2:n.*2220G>T
ENST00000682070.1:n.2347G>T
ENST00000682639.1:c.34G>T
ENST00000682813.1:n.2434G>T
ENST00000683231.1:c.34G>T
ENST00000683392.1:n.4629G>T
ENST00000683712.1:n.2442G>T
ENST00000683900.1:n.3937G>T
ENST00000684062.1:n.2703G>T
ENST00000684399.1:c.34G>T
ENST00000684579.1:n.3883G>T
ENST00000341012.12:c.1875G>T	ENSP00000343034.7:p.Leu625=
ENST00000372220.5:c.906G>T	ENSP00000361294.5:p.Leu302=
ENST00000372228.9:c.2103G>T	ENSP00000361302.3:p.Leu701=
ENST00000402686.8:c.2037G>T MANE Select	ENSP00000385797.4:p.Leu679=
ENST00000676640.1:c.2037G>T	ENSP00000503281.1:p.Leu679=
ENST00000676803.1:c.1098G>T	ENSP00000503093.1:p.Leu366=
ENST00000676835.1:c.*1252G>T	ENSP00000502911.1:n.*1252G>T
ENST00000677029.1:c.1581G>T	ENSP00000502936.1:p.Leu527=
ENST00000677099.1:c.*1747G>T	ENSP00000504553.1:n.*1747G>T
ENST00000677216.1:c.1686G>T	ENSP00000503772.1:p.Leu562=
ENST00000677221.1:n.1062G>T
ENST00000677295.1:c.*1259G>T	ENSP00000504346.1:n.*1259G>T
ENST00000677444.1:c.1982G>T
ENST00000677586.1:n.1404G>T
ENST00000677626.1:c.1686G>T	ENSP00000503552.1:p.Leu562=
ENST00000677853.1:c.*1045G>T	ENSP00000503488.1:n.*1045G>T
ENST00000678264.1:c.*1414G>T	ENSP00000503157.1:n.*1414G>T
ENST00000678303.1:c.1947G>T	ENSP00000503696.1:p.Leu649=
ENST00000678366.1:c.*2286G>T	ENSP00000504353.1:n.*2286G>T
ENST00000678546.1:c.*1982G>T	ENSP00000503062.1:n.*1982G>T
ENST00000678548.1:c.*2176G>T	ENSP00000503934.1:n.*2176G>T
ENST00000678626.1:n.1873G>T
ENST00000678739.1:c.*2203G>T	ENSP00000503806.1:n.*2203G>T
ENST00000678833.1:c.*1789G>T	ENSP00000503893.1:n.*1789G>T
ENST00000679023.1:c.1875G>T	ENSP00000503718.1:p.Leu625=
ENST00000679076.1:c.1656G>T
ENST00000679111.1:c.*793G>T	ENSP00000504257.1:n.*793G>T
ENST00000679189.1:c.1686G>T	ENSP00000503356.1:p.Leu562=
ENST00000341012.11:c.1875G>T	ENSP00000343034.7:p.Leu625=
ENST00000372220.4:c.900G>T	ENSP00000361294.4:p.Leu300=
ENST00000372228.7:c.2103G>T	ENSP00000361302.3:p.Leu701=
ENST00000402686.7:c.2037G>T	ENSP00000385797.3:p.Leu679=
ENST00000404875.6:c.1686G>T	ENSP00000384531.2:p.Leu562=
ENST00000423007.5:c.2037G>T	ENSP00000404119.1:p.Leu679=
ENST00000485278.5:n.2587G>T
NM_001077365.1:c.2037G>T	NP_001070833.1:p.Leu679=
NM_001077366.1:c.1875G>T	NP_001070834.1:p.Leu625=
NM_001136113.1:c.2037G>T	NP_001129585.1:p.Leu679=
NM_001136114.1:c.1686G>T	NP_001129586.1:p.Leu562=
NM_007171.3:c.2103G>T	NP_009102.3:p.Leu701=
XM_005272156.1:c.2103G>T	XP_005272213.1:p.Leu701=
XM_005272158.1:c.1941G>T	XP_005272215.1:p.Leu647=
XM_005272159.1:c.1752G>T	XP_005272216.1:p.Leu584=
XM_005272162.1:c.906G>T	XP_005272219.1:p.Leu302=
XM_006716932.1:c.1752G>T	XP_006716995.1:p.Leu584=
XM_011518140.1:c.1956G>T	XP_011516442.1:p.Leu652=
XM_011518141.1:c.1890G>T	XP_011516443.1:p.Leu630=
XM_011518142.1:c.1794G>T	XP_011516444.1:p.Leu598=
XM_011518143.1:c.1788G>T	XP_011516445.1:p.Leu596=
XM_011518145.1:c.1647G>T	XP_011516447.1:p.Leu549=
XM_011518147.1:c.975G>T	XP_011516449.1:p.Leu325=
XR_929703.1:n.2279G>T
NM_001353193.1:c.2103G>T	NP_001340122.1:p.Leu701=
NM_001353194.1:c.1875G>T	NP_001340123.1:p.Leu625=
NM_001353195.1:c.1686G>T	NP_001340124.1:p.Leu562=
NM_001353196.1:c.1947G>T	NP_001340125.1:p.Leu649=
NM_001353197.1:c.1941G>T	NP_001340126.1:p.Leu647=
NM_001353198.1:c.1941G>T	NP_001340127.1:p.Leu647=
NM_001353199.1:c.1752G>T	NP_001340128.1:p.Leu584=
NM_001353200.1:c.1581G>T	NP_001340129.1:p.Leu527=
NR_148391.1:n.2087G>T
NR_148392.1:n.2305G>T
NR_148393.1:n.2226G>T
NR_148394.1:n.1980G>T
NR_148395.1:n.2378G>T
NR_148396.1:n.2012G>T
NR_148397.1:n.2137G>T
NR_148398.1:n.2092G>T
NR_148399.1:n.2618G>T
NR_148400.1:n.2217G>T
XM_005272162.3:c.906G>T	XP_005272219.1:p.Leu302=
XM_006716932.2:c.1752G>T	XP_006716995.1:p.Leu584=
XM_011518140.2:c.1956G>T	XP_011516442.1:p.Leu652=
XM_011518141.2:c.1890G>T	XP_011516443.1:p.Leu630=
XM_011518142.2:c.1794G>T	XP_011516444.1:p.Leu598=
XM_011518143.2:c.1788G>T	XP_011516445.1:p.Leu596=
XM_011518145.2:c.1647G>T	XP_011516447.1:p.Leu549=
XM_017014205.2:c.906G>T	XP_016869694.1:p.Leu302=
XM_024447380.1:c.906G>T	XP_024303148.1:p.Leu302=
XM_024447381.1:c.1212G>T	XP_024303149.1:p.Leu404=
XM_024447382.1:c.906G>T	XP_024303150.1:p.Leu302=
XR_001746160.2:n.2207G>T
XR_001746162.2:n.2412G>T
XR_001746164.1:n.2129G>T
XR_001746166.2:n.2424G>T
NM_001077365.2:c.2037G>T MANE Select	NP_001070833.1:p.Leu679=
NM_001077366.2:c.1875G>T	NP_001070834.1:p.Leu625=
NM_001136113.2:c.2037G>T	NP_001129585.1:p.Leu679=
NM_001136114.2:c.1686G>T	NP_001129586.1:p.Leu562=
NM_001353193.2:c.2103G>T	NP_001340122.2:p.Leu701=
NM_001353194.2:c.1875G>T	NP_001340123.1:p.Leu625=
NM_001353195.2:c.1686G>T	NP_001340124.1:p.Leu562=
NM_001353196.2:c.1947G>T	NP_001340125.1:p.Leu649=
NM_001353197.2:c.1941G>T	NP_001340126.2:p.Leu647=
NM_001353198.2:c.1941G>T	NP_001340127.2:p.Leu647=
NM_001353199.2:c.1752G>T	NP_001340128.2:p.Leu584=
NM_001353200.2:c.1581G>T	NP_001340129.1:p.Leu527=
NM_001374689.1:c.2025G>T	NP_001361618.1:p.Leu675=
NM_001374690.1:c.1818G>T	NP_001361619.1:p.Leu606=
NM_001374691.1:c.1686G>T	NP_001361620.1:p.Leu562=
NM_001374692.1:c.1686G>T	NP_001361621.1:p.Leu562=
NM_001374693.1:c.1686G>T	NP_001361622.1:p.Leu562=
NM_001374695.1:c.1647G>T	NP_001361624.1:p.Leu549=
NM_007171.4:c.2103G>T	NP_009102.4:p.Leu701=
NR_148391.2:n.2071G>T
NR_148392.2:n.2289G>T
NR_148393.2:n.2210G>T
NR_148394.2:n.1964G>T
NR_148395.2:n.2362G>T
NR_148396.2:n.1996G>T
NR_148397.2:n.2121G>T
NR_148398.2:n.2076G>T
NR_148399.2:n.2602G>T
NR_148400.2:n.2201G>T