Canonical Allele Identifier: CA483894721

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944217-C-A
• MyVariant Identifiers: chr13:g.52518353C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944217C>A , CM000675.2:g.51944217C>A	GRCh38
NC_000013.10:g.52518353C>A , CM000675.1:g.52518353C>A	GRCh37
NC_000013.9:g.51416354C>A	NCBI36
NG_008806.1:g.72278G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1663G>T	ENSP00000489512.2:n.*894-1663G>T
ENST00000673864.2:c.*1879G>T	ENSP00000501045.2:n.*1879G>T
ENST00000674147.2:c.2514G>T	ENSP00000500964.2:p.Leu838=
ENST00000242839.10:c.3135G>T MANE Select	ENSP00000242839.5:p.Leu1045=
ENST00000344297.9:c.2514G>T	ENSP00000342559.5:p.Leu838=
ENST00000400366.6:c.2802G>T	ENSP00000383217.3:p.Leu934=
ENST00000448424.7:c.2883G>T	ENSP00000416738.3:p.Leu961=
ENST00000673772.1:c.2901G>T	ENSP00000501168.1:p.Leu967=
ENST00000673867.1:n.3274G>T
ENST00000674126.1:n.3498G>T
ENST00000674147.1:c.2070G>T	ENSP00000500964.1:p.Leu690=
ENST00000242839.8:c.3135G>T	ENSP00000242839.4:p.Leu1045=
ENST00000344297.8:c.2514G>T	ENSP00000342559.5:p.Leu838=
ENST00000400366.5:c.2802G>T	ENSP00000383217.3:p.Leu934=
ENST00000400370.8:c.1845G>T	ENSP00000383221.3:p.Leu615=
ENST00000418097.7:c.2940G>T	ENSP00000393343.2:p.Leu980=
ENST00000448424.6:c.2901G>T	ENSP00000416738.2:p.Leu967=
ENST00000466629.1:n.355G>T
ENST00000634296.1:c.1022-1663G>T
ENST00000634308.1:c.*236G>T	ENSP00000489234.1:n.*236G>T
ENST00000634620.1:n.3879G>T
ENST00000634810.1:n.2480G>T
ENST00000634844.1:c.2991G>T	ENSP00000489398.1:p.Leu997=
ENST00000635406.1:n.481G>T
NM_000053.3:c.3135G>T	NP_000044.2:p.Leu1045=
NM_001005918.2:c.2514G>T	NP_001005918.1:p.Leu838=
NM_001243182.1:c.2802G>T	NP_001230111.1:p.Leu934=
XM_005266423.2:c.3039G>T	XP_005266480.1:p.Leu1013=
XM_005266424.3:c.3039G>T	XP_005266481.1:p.Leu1013=
XM_005266427.2:c.2901G>T	XP_005266484.1:p.Leu967=
XM_005266428.1:c.2883G>T	XP_005266485.1:p.Leu961=
XM_005266430.3:c.3135G>T	XP_005266487.1:p.Leu1045=
XM_005266431.2:c.3099G>T	XP_005266488.1:p.Leu1033=
XM_005266432.2:c.2649G>T	XP_005266489.1:p.Leu883=
XM_006719837.2:c.3039G>T	XP_006719900.1:p.Leu1013=
XM_006719838.1:c.951G>T	XP_006719901.1:p.Leu317=
XM_006719839.1:c.877-1663G>T	XP_006719902.1:n.877-1663G>T
XM_011535117.1:c.3039G>T	XP_011533419.1:p.Leu1013=
XM_011535118.1:c.3000G>T	XP_011533420.1:p.Leu1000=
XM_011535119.1:c.3061-1663G>T	XP_011533421.1:n.3061-1663G>T
XM_011535120.1:c.2721G>T	XP_011533422.1:p.Leu907=
XM_011535121.1:c.2731-1663G>T	XP_011533423.1:n.2731-1663G>T
XM_011535122.1:c.1803G>T	XP_011533424.1:p.Leu601=
XR_941601.1:n.3354G>T
XR_941602.1:n.3354G>T
XR_941603.1:n.3354G>T
XR_941604.1:n.3354G>T
NM_001330578.1:c.2901G>T	NP_001317507.1:p.Leu967=
NM_001330579.1:c.2883G>T	NP_001317508.1:p.Leu961=
XM_005266424.4:c.3039G>T	XP_005266481.1:p.Leu1013=
XM_005266430.4:c.3135G>T	XP_005266487.1:p.Leu1045=
XM_005266431.4:c.3099G>T	XP_005266488.1:p.Leu1033=
XM_006719837.3:c.3039G>T	XP_006719900.1:p.Leu1013=
XM_011535117.3:c.3039G>T	XP_011533419.1:p.Leu1013=
XM_017020627.1:c.3039G>T	XP_016876116.1:p.Leu1013=
NM_000053.4:c.3135G>T MANE Select	NP_000044.2:p.Leu1045=
NM_001005918.3:c.2514G>T	NP_001005918.1:p.Leu838=
NM_001330579.2:c.2883G>T	NP_001317508.1:p.Leu961=
NM_001243182.2:c.2802G>T	NP_001230111.1:p.Leu934=
NM_001330578.2:c.2901G>T	NP_001317507.1:p.Leu967=