Canonical Allele Identifier: CA388030139

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518339G>T (hg19) ; chr13:g.51944203G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944203G>T , CM000675.2:g.51944203G>T	GRCh38
NC_000013.10:g.52518339G>T , CM000675.1:g.52518339G>T	GRCh37
NC_000013.9:g.51416340G>T	NCBI36
NG_008806.1:g.72292C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1649C>A	ENSP00000489512.2:n.*894-1649C>A
ENST00000673864.2:c.*1893C>A	ENSP00000501045.2:n.*1893C>A
ENST00000674147.2:c.2528C>A	ENSP00000500964.2:p.Thr843Lys
ENST00000242839.10:c.3149C>A MANE Select	ENSP00000242839.5:p.Thr1050Lys
ENST00000344297.9:c.2528C>A	ENSP00000342559.5:p.Thr843Lys
ENST00000400366.6:c.2816C>A	ENSP00000383217.3:p.Thr939Lys
ENST00000448424.7:c.2897C>A	ENSP00000416738.3:p.Thr966Lys
ENST00000673772.1:c.2915C>A	ENSP00000501168.1:p.Thr972Lys
ENST00000673867.1:n.3288C>A
ENST00000674126.1:n.3512C>A
ENST00000674147.1:c.2084C>A	ENSP00000500964.1:p.Thr695Lys
ENST00000242839.8:c.3149C>A	ENSP00000242839.4:p.Thr1050Lys
ENST00000344297.8:c.2528C>A	ENSP00000342559.5:p.Thr843Lys
ENST00000400366.5:c.2816C>A	ENSP00000383217.3:p.Thr939Lys
ENST00000400370.8:c.1859C>A	ENSP00000383221.3:p.Thr620Lys
ENST00000418097.7:c.2954C>A	ENSP00000393343.2:p.Thr985Lys
ENST00000448424.6:c.2915C>A	ENSP00000416738.2:p.Thr972Lys
ENST00000466629.1:n.369C>A
ENST00000634296.1:c.1022-1649C>A
ENST00000634308.1:c.*250C>A	ENSP00000489234.1:n.*250C>A
ENST00000634620.1:n.3893C>A
ENST00000634810.1:n.2494C>A
ENST00000634844.1:c.3005C>A	ENSP00000489398.1:p.Thr1002Lys
ENST00000635406.1:n.495C>A
NM_000053.3:c.3149C>A	NP_000044.2:p.Thr1050Lys
NM_001005918.2:c.2528C>A	NP_001005918.1:p.Thr843Lys
NM_001243182.1:c.2816C>A	NP_001230111.1:p.Thr939Lys
XM_005266423.2:c.3053C>A	XP_005266480.1:p.Thr1018Lys
XM_005266424.3:c.3053C>A	XP_005266481.1:p.Thr1018Lys
XM_005266427.2:c.2915C>A	XP_005266484.1:p.Thr972Lys
XM_005266428.1:c.2897C>A	XP_005266485.1:p.Thr966Lys
XM_005266430.3:c.3149C>A	XP_005266487.1:p.Thr1050Lys
XM_005266431.2:c.3113C>A	XP_005266488.1:p.Thr1038Lys
XM_005266432.2:c.2663C>A	XP_005266489.1:p.Thr888Lys
XM_006719837.2:c.3053C>A	XP_006719900.1:p.Thr1018Lys
XM_006719838.1:c.965C>A	XP_006719901.1:p.Thr322Lys
XM_006719839.1:c.877-1649C>A	XP_006719902.1:n.877-1649C>A
XM_011535117.1:c.3053C>A	XP_011533419.1:p.Thr1018Lys
XM_011535118.1:c.3014C>A	XP_011533420.1:p.Thr1005Lys
XM_011535119.1:c.3061-1649C>A	XP_011533421.1:n.3061-1649C>A
XM_011535120.1:c.2735C>A	XP_011533422.1:p.Thr912Lys
XM_011535121.1:c.2731-1649C>A	XP_011533423.1:n.2731-1649C>A
XM_011535122.1:c.1817C>A	XP_011533424.1:p.Thr606Lys
XR_941601.1:n.3368C>A
XR_941602.1:n.3368C>A
XR_941603.1:n.3368C>A
XR_941604.1:n.3368C>A
NM_001330578.1:c.2915C>A	NP_001317507.1:p.Thr972Lys
NM_001330579.1:c.2897C>A	NP_001317508.1:p.Thr966Lys
XM_005266424.4:c.3053C>A	XP_005266481.1:p.Thr1018Lys
XM_005266430.4:c.3149C>A	XP_005266487.1:p.Thr1050Lys
XM_005266431.4:c.3113C>A	XP_005266488.1:p.Thr1038Lys
XM_006719837.3:c.3053C>A	XP_006719900.1:p.Thr1018Lys
XM_011535117.3:c.3053C>A	XP_011533419.1:p.Thr1018Lys
XM_017020627.1:c.3053C>A	XP_016876116.1:p.Thr1018Lys
NM_000053.4:c.3149C>A MANE Select	NP_000044.2:p.Thr1050Lys
NM_001005918.3:c.2528C>A	NP_001005918.1:p.Thr843Lys
NM_001330579.2:c.2897C>A	NP_001317508.1:p.Thr966Lys
NM_001243182.2:c.2816C>A	NP_001230111.1:p.Thr939Lys
NM_001330578.2:c.2915C>A	NP_001317507.1:p.Thr972Lys