Canonical Allele Identifier: CA388029833

Gene: ATP7B

Linked Data

• dbSNP Id: rs1233061724
• gnomAD v2: 13-52518270-A-G
• gnomAD v4: 13-51944134-A-G
• MyVariant Identifiers: chr13:g.52518270A>G (hg19) ; chr13:g.51944134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944134A>G , CM000675.2:g.51944134A>G	GRCh38
NC_000013.10:g.52518270A>G , CM000675.1:g.52518270A>G	GRCh37
NC_000013.9:g.51416271A>G	NCBI36
NG_008806.1:g.72361T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1580T>C	ENSP00000489512.2:n.*894-1580T>C
ENST00000673864.2:c.*1962T>C	ENSP00000501045.2:n.*1962T>C
ENST00000674147.2:c.2597T>C	ENSP00000500964.2:p.Val866Ala
ENST00000242839.10:c.3218T>C MANE Select	ENSP00000242839.5:p.Val1073Ala
ENST00000344297.9:c.2597T>C	ENSP00000342559.5:p.Val866Ala
ENST00000400366.6:c.2885T>C	ENSP00000383217.3:p.Val962Ala
ENST00000448424.7:c.2966T>C	ENSP00000416738.3:p.Val989Ala
ENST00000673772.1:c.2984T>C	ENSP00000501168.1:p.Val995Ala
ENST00000673867.1:n.3357T>C
ENST00000674126.1:n.3581T>C
ENST00000674147.1:c.2153T>C	ENSP00000500964.1:p.Val718Ala
ENST00000242839.8:c.3218T>C	ENSP00000242839.4:p.Val1073Ala
ENST00000344297.8:c.2597T>C	ENSP00000342559.5:p.Val866Ala
ENST00000400366.5:c.2885T>C	ENSP00000383217.3:p.Val962Ala
ENST00000400370.8:c.1928T>C	ENSP00000383221.3:p.Val643Ala
ENST00000418097.7:c.3023T>C	ENSP00000393343.2:p.Val1008Ala
ENST00000448424.6:c.2984T>C	ENSP00000416738.2:p.Val995Ala
ENST00000466629.1:n.438T>C
ENST00000634296.1:c.1022-1580T>C
ENST00000634308.1:c.*319T>C	ENSP00000489234.1:n.*319T>C
ENST00000634620.1:n.3962T>C
ENST00000634810.1:n.2563T>C
ENST00000634844.1:c.3074T>C	ENSP00000489398.1:p.Val1025Ala
NM_000053.3:c.3218T>C	NP_000044.2:p.Val1073Ala
NM_001005918.2:c.2597T>C	NP_001005918.1:p.Val866Ala
NM_001243182.1:c.2885T>C	NP_001230111.1:p.Val962Ala
XM_005266423.2:c.3122T>C	XP_005266480.1:p.Val1041Ala
XM_005266424.3:c.3122T>C	XP_005266481.1:p.Val1041Ala
XM_005266427.2:c.2984T>C	XP_005266484.1:p.Val995Ala
XM_005266428.1:c.2966T>C	XP_005266485.1:p.Val989Ala
XM_005266430.3:c.3218T>C	XP_005266487.1:p.Val1073Ala
XM_005266431.2:c.3182T>C	XP_005266488.1:p.Val1061Ala
XM_005266432.2:c.2732T>C	XP_005266489.1:p.Val911Ala
XM_006719837.2:c.3122T>C	XP_006719900.1:p.Val1041Ala
XM_006719838.1:c.1034T>C	XP_006719901.1:p.Val345Ala
XM_006719839.1:c.877-1580T>C	XP_006719902.1:n.877-1580T>C
XM_011535117.1:c.3122T>C	XP_011533419.1:p.Val1041Ala
XM_011535118.1:c.3083T>C	XP_011533420.1:p.Val1028Ala
XM_011535119.1:c.3061-1580T>C	XP_011533421.1:n.3061-1580T>C
XM_011535120.1:c.2804T>C	XP_011533422.1:p.Val935Ala
XM_011535121.1:c.2731-1580T>C	XP_011533423.1:n.2731-1580T>C
XM_011535122.1:c.1886T>C	XP_011533424.1:p.Val629Ala
XR_941601.1:n.3437T>C
XR_941602.1:n.3437T>C
XR_941603.1:n.3437T>C
XR_941604.1:n.3437T>C
NM_001330578.1:c.2984T>C	NP_001317507.1:p.Val995Ala
NM_001330579.1:c.2966T>C	NP_001317508.1:p.Val989Ala
XM_005266424.4:c.3122T>C	XP_005266481.1:p.Val1041Ala
XM_005266430.4:c.3218T>C	XP_005266487.1:p.Val1073Ala
XM_005266431.4:c.3182T>C	XP_005266488.1:p.Val1061Ala
XM_006719837.3:c.3122T>C	XP_006719900.1:p.Val1041Ala
XM_011535117.3:c.3122T>C	XP_011533419.1:p.Val1041Ala
XM_017020627.1:c.3122T>C	XP_016876116.1:p.Val1041Ala
NM_000053.4:c.3218T>C MANE Select	NP_000044.2:p.Val1073Ala
NM_001005918.3:c.2597T>C	NP_001005918.1:p.Val866Ala
NM_001330579.2:c.2966T>C	NP_001317508.1:p.Val989Ala
NM_001243182.2:c.2885T>C	NP_001230111.1:p.Val962Ala
NM_001330578.2:c.2984T>C	NP_001317507.1:p.Val995Ala