Canonical Allele Identifier: CA375315364

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398449C>T (hg19) ; chr9:g.131523062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523062C>T , CM000671.2:g.131523062C>T	GRCh38
NC_000009.11:g.134398449C>T , CM000671.1:g.134398449C>T	GRCh37
NC_000009.10:g.133388270C>T	NCBI36
NG_008896.1:g.25161C>T
NG_008896.2:g.25161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1972C>T	ENSP00000343034.7:p.Leu658Phe
ENST00000404875.7:n.2674C>T
ENST00000423007.6:c.2191C>T	ENSP00000404119.2:p.Leu731Phe
ENST00000677295.2:c.*2478C>T	ENSP00000504346.2:n.*2478C>T
ENST00000678264.2:c.*2317C>T	ENSP00000503157.2:n.*2317C>T
ENST00000682070.1:n.2444C>T
ENST00000682639.1:c.131C>T
ENST00000682813.1:n.2531C>T
ENST00000683231.1:c.131C>T
ENST00000683392.1:n.4726C>T
ENST00000683712.1:n.2539C>T
ENST00000683900.1:n.4034C>T
ENST00000684062.1:n.2800C>T
ENST00000684399.1:c.131C>T
ENST00000684579.1:n.3980C>T
ENST00000341012.12:c.1972C>T	ENSP00000343034.7:p.Leu658Phe
ENST00000372220.5:c.1003C>T	ENSP00000361294.5:p.Leu335Phe
ENST00000372228.9:c.2200C>T	ENSP00000361302.3:p.Leu734Phe
ENST00000402686.8:c.2134C>T MANE Select	ENSP00000385797.4:p.Leu712Phe
ENST00000676640.1:c.2134C>T	ENSP00000503281.1:p.Leu712Phe
ENST00000676803.1:c.1195C>T	ENSP00000503093.1:p.Leu399Phe
ENST00000676835.1:c.*1349C>T	ENSP00000502911.1:n.*1349C>T
ENST00000677029.1:c.1678C>T	ENSP00000502936.1:p.Leu560Phe
ENST00000677099.1:c.*1844C>T	ENSP00000504553.1:n.*1844C>T
ENST00000677216.1:c.1783C>T	ENSP00000503772.1:p.Leu595Phe
ENST00000677295.1:c.*1356C>T	ENSP00000504346.1:n.*1356C>T
ENST00000677444.1:c.2079C>T
ENST00000677586.1:n.1501C>T
ENST00000677626.1:c.1783C>T	ENSP00000503552.1:p.Leu595Phe
ENST00000677853.1:c.*1142C>T	ENSP00000503488.1:n.*1142C>T
ENST00000678264.1:c.*1511C>T	ENSP00000503157.1:n.*1511C>T
ENST00000678303.1:c.2044C>T	ENSP00000503696.1:p.Leu682Phe
ENST00000678366.1:c.*2383C>T	ENSP00000504353.1:n.*2383C>T
ENST00000678546.1:c.*2079C>T	ENSP00000503062.1:n.*2079C>T
ENST00000678548.1:c.*2273C>T	ENSP00000503934.1:n.*2273C>T
ENST00000678626.1:n.1970C>T
ENST00000678739.1:c.*2300C>T	ENSP00000503806.1:n.*2300C>T
ENST00000678833.1:c.*1886C>T	ENSP00000503893.1:n.*1886C>T
ENST00000679023.1:c.1972C>T	ENSP00000503718.1:p.Leu658Phe
ENST00000679076.1:c.1753C>T
ENST00000679111.1:c.*890C>T	ENSP00000504257.1:n.*890C>T
ENST00000679189.1:c.1783C>T	ENSP00000503356.1:p.Leu595Phe
ENST00000341012.11:c.1972C>T	ENSP00000343034.7:p.Leu658Phe
ENST00000372220.4:c.997C>T	ENSP00000361294.4:p.Leu333Phe
ENST00000372228.7:c.2200C>T	ENSP00000361302.3:p.Leu734Phe
ENST00000402686.7:c.2134C>T	ENSP00000385797.3:p.Leu712Phe
ENST00000404875.6:c.1783C>T	ENSP00000384531.2:p.Leu595Phe
ENST00000423007.5:c.2134C>T	ENSP00000404119.1:p.Leu712Phe
ENST00000485278.5:n.2684C>T
NM_001077365.1:c.2134C>T	NP_001070833.1:p.Leu712Phe
NM_001077366.1:c.1972C>T	NP_001070834.1:p.Leu658Phe
NM_001136113.1:c.2134C>T	NP_001129585.1:p.Leu712Phe
NM_001136114.1:c.1783C>T	NP_001129586.1:p.Leu595Phe
NM_007171.3:c.2200C>T	NP_009102.3:p.Leu734Phe
XM_005272156.1:c.2200C>T	XP_005272213.1:p.Leu734Phe
XM_005272158.1:c.2038C>T	XP_005272215.1:p.Leu680Phe
XM_005272159.1:c.1849C>T	XP_005272216.1:p.Leu617Phe
XM_005272162.1:c.1003C>T	XP_005272219.1:p.Leu335Phe
XM_006716932.1:c.1849C>T	XP_006716995.1:p.Leu617Phe
XM_011518140.1:c.2053C>T	XP_011516442.1:p.Leu685Phe
XM_011518141.1:c.1987C>T	XP_011516443.1:p.Leu663Phe
XM_011518142.1:c.1891C>T	XP_011516444.1:p.Leu631Phe
XM_011518143.1:c.1885C>T	XP_011516445.1:p.Leu629Phe
XM_011518145.1:c.1744C>T	XP_011516447.1:p.Leu582Phe
XM_011518147.1:c.1072C>T	XP_011516449.1:p.Leu358Phe
XR_929703.1:n.2376C>T
NM_001353193.1:c.2200C>T	NP_001340122.1:p.Leu734Phe
NM_001353194.1:c.1972C>T	NP_001340123.1:p.Leu658Phe
NM_001353195.1:c.1783C>T	NP_001340124.1:p.Leu595Phe
NM_001353196.1:c.2044C>T	NP_001340125.1:p.Leu682Phe
NM_001353197.1:c.2038C>T	NP_001340126.1:p.Leu680Phe
NM_001353198.1:c.2038C>T	NP_001340127.1:p.Leu680Phe
NM_001353199.1:c.1849C>T	NP_001340128.1:p.Leu617Phe
NM_001353200.1:c.1678C>T	NP_001340129.1:p.Leu560Phe
NR_148391.1:n.2184C>T
NR_148392.1:n.2402C>T
NR_148393.1:n.2323C>T
NR_148394.1:n.2077C>T
NR_148395.1:n.2475C>T
NR_148396.1:n.2109C>T
NR_148397.1:n.2234C>T
NR_148398.1:n.2189C>T
NR_148399.1:n.2715C>T
NR_148400.1:n.2314C>T
XM_005272162.3:c.1003C>T	XP_005272219.1:p.Leu335Phe
XM_006716932.2:c.1849C>T	XP_006716995.1:p.Leu617Phe
XM_011518140.2:c.2053C>T	XP_011516442.1:p.Leu685Phe
XM_011518141.2:c.1987C>T	XP_011516443.1:p.Leu663Phe
XM_011518142.2:c.1891C>T	XP_011516444.1:p.Leu631Phe
XM_011518143.2:c.1885C>T	XP_011516445.1:p.Leu629Phe
XM_011518145.2:c.1744C>T	XP_011516447.1:p.Leu582Phe
XM_017014205.2:c.1003C>T	XP_016869694.1:p.Leu335Phe
XM_024447380.1:c.1003C>T	XP_024303148.1:p.Leu335Phe
XM_024447381.1:c.1309C>T	XP_024303149.1:p.Leu437Phe
XM_024447382.1:c.1003C>T	XP_024303150.1:p.Leu335Phe
XR_001746160.2:n.2304C>T
XR_001746162.2:n.2509C>T
XR_001746164.1:n.2226C>T
XR_001746166.2:n.2521C>T
NM_001077365.2:c.2134C>T MANE Select	NP_001070833.1:p.Leu712Phe
NM_001077366.2:c.1972C>T	NP_001070834.1:p.Leu658Phe
NM_001136113.2:c.2134C>T	NP_001129585.1:p.Leu712Phe
NM_001136114.2:c.1783C>T	NP_001129586.1:p.Leu595Phe
NM_001353193.2:c.2200C>T	NP_001340122.2:p.Leu734Phe
NM_001353194.2:c.1972C>T	NP_001340123.1:p.Leu658Phe
NM_001353195.2:c.1783C>T	NP_001340124.1:p.Leu595Phe
NM_001353196.2:c.2044C>T	NP_001340125.1:p.Leu682Phe
NM_001353197.2:c.2038C>T	NP_001340126.2:p.Leu680Phe
NM_001353198.2:c.2038C>T	NP_001340127.2:p.Leu680Phe
NM_001353199.2:c.1849C>T	NP_001340128.2:p.Leu617Phe
NM_001353200.2:c.1678C>T	NP_001340129.1:p.Leu560Phe
NM_001374689.1:c.2122C>T	NP_001361618.1:p.Leu708Phe
NM_001374690.1:c.1915C>T	NP_001361619.1:p.Leu639Phe
NM_001374691.1:c.1783C>T	NP_001361620.1:p.Leu595Phe
NM_001374692.1:c.1783C>T	NP_001361621.1:p.Leu595Phe
NM_001374693.1:c.1783C>T	NP_001361622.1:p.Leu595Phe
NM_001374695.1:c.1744C>T	NP_001361624.1:p.Leu582Phe
NM_007171.4:c.2200C>T	NP_009102.4:p.Leu734Phe
NR_148391.2:n.2168C>T
NR_148392.2:n.2386C>T
NR_148393.2:n.2307C>T
NR_148394.2:n.2061C>T
NR_148395.2:n.2459C>T
NR_148396.2:n.2093C>T
NR_148397.2:n.2218C>T
NR_148398.2:n.2173C>T
NR_148399.2:n.2699C>T
NR_148400.2:n.2298C>T