Canonical Allele Identifier: CA375315524

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398488C>T (hg19) ; chr9:g.131523101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523101C>T , CM000671.2:g.131523101C>T	GRCh38
NC_000009.11:g.134398488C>T , CM000671.1:g.134398488C>T	GRCh37
NC_000009.10:g.133388309C>T	NCBI36
NG_008896.1:g.25200C>T
NG_008896.2:g.25200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2011C>T	ENSP00000343034.7:p.His671Tyr
ENST00000404875.7:n.2713C>T
ENST00000423007.6:c.2230C>T	ENSP00000404119.2:p.His744Tyr
ENST00000677295.2:c.*2517C>T	ENSP00000504346.2:n.*2517C>T
ENST00000678264.2:c.*2356C>T	ENSP00000503157.2:n.*2356C>T
ENST00000682070.1:n.2483C>T
ENST00000682639.1:c.170C>T
ENST00000682813.1:n.2570C>T
ENST00000683231.1:c.170C>T
ENST00000683392.1:n.4765C>T
ENST00000683712.1:n.2578C>T
ENST00000683900.1:n.4073C>T
ENST00000684062.1:n.2839C>T
ENST00000684399.1:c.170C>T
ENST00000684579.1:n.4019C>T
ENST00000341012.12:c.2011C>T	ENSP00000343034.7:p.His671Tyr
ENST00000372220.5:c.1042C>T	ENSP00000361294.5:p.His348Tyr
ENST00000372228.9:c.2239C>T	ENSP00000361302.3:p.His747Tyr
ENST00000402686.8:c.2173C>T MANE Select	ENSP00000385797.4:p.His725Tyr
ENST00000676640.1:c.2173C>T	ENSP00000503281.1:p.His725Tyr
ENST00000676803.1:c.1234C>T	ENSP00000503093.1:p.His412Tyr
ENST00000676835.1:c.*1388C>T	ENSP00000502911.1:n.*1388C>T
ENST00000677029.1:c.1717C>T	ENSP00000502936.1:p.His573Tyr
ENST00000677099.1:c.*1883C>T	ENSP00000504553.1:n.*1883C>T
ENST00000677216.1:c.1822C>T	ENSP00000503772.1:p.His608Tyr
ENST00000677295.1:c.*1395C>T	ENSP00000504346.1:n.*1395C>T
ENST00000677444.1:c.2118C>T
ENST00000677586.1:n.1540C>T
ENST00000677626.1:c.1822C>T	ENSP00000503552.1:p.His608Tyr
ENST00000677853.1:c.*1181C>T	ENSP00000503488.1:n.*1181C>T
ENST00000678264.1:c.*1550C>T	ENSP00000503157.1:n.*1550C>T
ENST00000678303.1:c.2083C>T	ENSP00000503696.1:p.His695Tyr
ENST00000678366.1:c.*2422C>T	ENSP00000504353.1:n.*2422C>T
ENST00000678546.1:c.*2118C>T	ENSP00000503062.1:n.*2118C>T
ENST00000678548.1:c.*2312C>T	ENSP00000503934.1:n.*2312C>T
ENST00000678626.1:n.2009C>T
ENST00000678739.1:c.*2339C>T	ENSP00000503806.1:n.*2339C>T
ENST00000678833.1:c.*1925C>T	ENSP00000503893.1:n.*1925C>T
ENST00000679023.1:c.2011C>T	ENSP00000503718.1:p.His671Tyr
ENST00000679076.1:c.1792C>T
ENST00000679111.1:c.*929C>T	ENSP00000504257.1:n.*929C>T
ENST00000679189.1:c.1822C>T	ENSP00000503356.1:p.His608Tyr
ENST00000341012.11:c.2011C>T	ENSP00000343034.7:p.His671Tyr
ENST00000372220.4:c.1036C>T	ENSP00000361294.4:p.His346Tyr
ENST00000372228.7:c.2239C>T	ENSP00000361302.3:p.His747Tyr
ENST00000402686.7:c.2173C>T	ENSP00000385797.3:p.His725Tyr
ENST00000404875.6:c.1822C>T	ENSP00000384531.2:p.His608Tyr
ENST00000423007.5:c.2173C>T	ENSP00000404119.1:p.His725Tyr
ENST00000485278.5:n.2723C>T
NM_001077365.1:c.2173C>T	NP_001070833.1:p.His725Tyr
NM_001077366.1:c.2011C>T	NP_001070834.1:p.His671Tyr
NM_001136113.1:c.2173C>T	NP_001129585.1:p.His725Tyr
NM_001136114.1:c.1822C>T	NP_001129586.1:p.His608Tyr
NM_007171.3:c.2239C>T	NP_009102.3:p.His747Tyr
XM_005272156.1:c.2239C>T	XP_005272213.1:p.His747Tyr
XM_005272158.1:c.2077C>T	XP_005272215.1:p.His693Tyr
XM_005272159.1:c.1888C>T	XP_005272216.1:p.His630Tyr
XM_005272162.1:c.1042C>T	XP_005272219.1:p.His348Tyr
XM_006716932.1:c.1888C>T	XP_006716995.1:p.His630Tyr
XM_011518140.1:c.2092C>T	XP_011516442.1:p.His698Tyr
XM_011518141.1:c.2026C>T	XP_011516443.1:p.His676Tyr
XM_011518142.1:c.1930C>T	XP_011516444.1:p.His644Tyr
XM_011518143.1:c.1924C>T	XP_011516445.1:p.His642Tyr
XM_011518145.1:c.1783C>T	XP_011516447.1:p.His595Tyr
XM_011518147.1:c.1111C>T	XP_011516449.1:p.His371Tyr
XR_929703.1:n.2415C>T
NM_001353193.1:c.2239C>T	NP_001340122.1:p.His747Tyr
NM_001353194.1:c.2011C>T	NP_001340123.1:p.His671Tyr
NM_001353195.1:c.1822C>T	NP_001340124.1:p.His608Tyr
NM_001353196.1:c.2083C>T	NP_001340125.1:p.His695Tyr
NM_001353197.1:c.2077C>T	NP_001340126.1:p.His693Tyr
NM_001353198.1:c.2077C>T	NP_001340127.1:p.His693Tyr
NM_001353199.1:c.1888C>T	NP_001340128.1:p.His630Tyr
NM_001353200.1:c.1717C>T	NP_001340129.1:p.His573Tyr
NR_148391.1:n.2223C>T
NR_148392.1:n.2441C>T
NR_148393.1:n.2362C>T
NR_148394.1:n.2116C>T
NR_148395.1:n.2514C>T
NR_148396.1:n.2148C>T
NR_148397.1:n.2273C>T
NR_148398.1:n.2228C>T
NR_148399.1:n.2754C>T
NR_148400.1:n.2353C>T
XM_005272162.3:c.1042C>T	XP_005272219.1:p.His348Tyr
XM_006716932.2:c.1888C>T	XP_006716995.1:p.His630Tyr
XM_011518140.2:c.2092C>T	XP_011516442.1:p.His698Tyr
XM_011518141.2:c.2026C>T	XP_011516443.1:p.His676Tyr
XM_011518142.2:c.1930C>T	XP_011516444.1:p.His644Tyr
XM_011518143.2:c.1924C>T	XP_011516445.1:p.His642Tyr
XM_011518145.2:c.1783C>T	XP_011516447.1:p.His595Tyr
XM_017014205.2:c.1042C>T	XP_016869694.1:p.His348Tyr
XM_024447380.1:c.1042C>T	XP_024303148.1:p.His348Tyr
XM_024447381.1:c.1348C>T	XP_024303149.1:p.His450Tyr
XM_024447382.1:c.1042C>T	XP_024303150.1:p.His348Tyr
XR_001746160.2:n.2343C>T
XR_001746162.2:n.2548C>T
XR_001746164.1:n.2265C>T
XR_001746166.2:n.2560C>T
NM_001077365.2:c.2173C>T MANE Select	NP_001070833.1:p.His725Tyr
NM_001077366.2:c.2011C>T	NP_001070834.1:p.His671Tyr
NM_001136113.2:c.2173C>T	NP_001129585.1:p.His725Tyr
NM_001136114.2:c.1822C>T	NP_001129586.1:p.His608Tyr
NM_001353193.2:c.2239C>T	NP_001340122.2:p.His747Tyr
NM_001353194.2:c.2011C>T	NP_001340123.1:p.His671Tyr
NM_001353195.2:c.1822C>T	NP_001340124.1:p.His608Tyr
NM_001353196.2:c.2083C>T	NP_001340125.1:p.His695Tyr
NM_001353197.2:c.2077C>T	NP_001340126.2:p.His693Tyr
NM_001353198.2:c.2077C>T	NP_001340127.2:p.His693Tyr
NM_001353199.2:c.1888C>T	NP_001340128.2:p.His630Tyr
NM_001353200.2:c.1717C>T	NP_001340129.1:p.His573Tyr
NM_001374689.1:c.2161C>T	NP_001361618.1:p.His721Tyr
NM_001374690.1:c.1954C>T	NP_001361619.1:p.His652Tyr
NM_001374691.1:c.1822C>T	NP_001361620.1:p.His608Tyr
NM_001374692.1:c.1822C>T	NP_001361621.1:p.His608Tyr
NM_001374693.1:c.1822C>T	NP_001361622.1:p.His608Tyr
NM_001374695.1:c.1783C>T	NP_001361624.1:p.His595Tyr
NM_007171.4:c.2239C>T	NP_009102.4:p.His747Tyr
NR_148391.2:n.2207C>T
NR_148392.2:n.2425C>T
NR_148393.2:n.2346C>T
NR_148394.2:n.2100C>T
NR_148395.2:n.2498C>T
NR_148396.2:n.2132C>T
NR_148397.2:n.2257C>T
NR_148398.2:n.2212C>T
NR_148399.2:n.2738C>T
NR_148400.2:n.2337C>T