Canonical Allele Identifier: CA388021406

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937489-A-G
• MyVariant Identifiers: chr13:g.52511625A>G (hg19) ; chr13:g.51937489A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937489A>G , CM000675.2:g.51937489A>G	GRCh38
NC_000013.10:g.52511625A>G , CM000675.1:g.52511625A>G	GRCh37
NC_000013.9:g.51409626A>G	NCBI36
NG_008806.1:g.79006T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1540T>C	ENSP00000489512.2:n.*1540T>C
ENST00000673864.2:c.*2634T>C	ENSP00000501045.2:n.*2634T>C
ENST00000674147.2:c.3269T>C	ENSP00000500964.2:p.Val1090Ala
ENST00000242839.10:c.3890T>C MANE Select	ENSP00000242839.5:p.Val1297Ala
ENST00000344297.9:c.3269T>C	ENSP00000342559.5:p.Val1090Ala
ENST00000400366.6:c.3557T>C	ENSP00000383217.3:p.Val1186Ala
ENST00000448424.7:c.3638T>C	ENSP00000416738.3:p.Val1213Ala
ENST00000673696.1:n.1131T>C
ENST00000673772.1:c.3656T>C	ENSP00000501168.1:p.Val1219Ala
ENST00000673867.1:n.4029T>C
ENST00000673923.1:n.756T>C
ENST00000674147.1:c.2825T>C	ENSP00000500964.1:p.Val942Ala
ENST00000242839.8:c.3890T>C	ENSP00000242839.4:p.Val1297Ala
ENST00000344297.8:c.3269T>C	ENSP00000342559.5:p.Val1090Ala
ENST00000400366.5:c.3557T>C	ENSP00000383217.3:p.Val1186Ala
ENST00000400370.8:c.2600T>C	ENSP00000383221.3:p.Val867Ala
ENST00000418097.7:c.3695T>C	ENSP00000393343.2:p.Val1232Ala
ENST00000448424.6:c.3656T>C	ENSP00000416738.2:p.Val1219Ala
ENST00000634296.1:c.1668T>C
ENST00000634308.1:c.*991T>C	ENSP00000489234.1:n.*991T>C
ENST00000634620.1:n.4634T>C
ENST00000634810.1:n.3235T>C
ENST00000634844.1:c.3746T>C	ENSP00000489398.1:p.Val1249Ala
NM_000053.3:c.3890T>C	NP_000044.2:p.Val1297Ala
NM_001005918.2:c.3269T>C	NP_001005918.1:p.Val1090Ala
NM_001243182.1:c.3557T>C	NP_001230111.1:p.Val1186Ala
XM_005266423.2:c.3794T>C	XP_005266480.1:p.Val1265Ala
XM_005266424.3:c.3794T>C	XP_005266481.1:p.Val1265Ala
XM_005266427.2:c.3656T>C	XP_005266484.1:p.Val1219Ala
XM_005266428.1:c.3638T>C	XP_005266485.1:p.Val1213Ala
XM_005266430.3:c.3890T>C	XP_005266487.1:p.Val1297Ala
XM_005266431.2:c.3854T>C	XP_005266488.1:p.Val1285Ala
XM_005266432.2:c.3404T>C	XP_005266489.1:p.Val1135Ala
XM_006719837.2:c.3794T>C	XP_006719900.1:p.Val1265Ala
XM_006719838.1:c.1706T>C	XP_006719901.1:p.Val569Ala
XM_006719839.1:c.1523T>C	XP_006719902.1:p.Val508Ala
XM_011535117.1:c.3794T>C	XP_011533419.1:p.Val1265Ala
XM_011535118.1:c.3755T>C	XP_011533420.1:p.Val1252Ala
XM_011535119.1:c.3707T>C	XP_011533421.1:p.Val1236Ala
XM_011535120.1:c.3476T>C	XP_011533422.1:p.Val1159Ala
XM_011535121.1:c.3377T>C	XP_011533423.1:p.Val1126Ala
XM_011535122.1:c.2558T>C	XP_011533424.1:p.Val853Ala
XR_941601.1:n.4109T>C
XR_941602.1:n.4109T>C
XR_941603.1:n.4109T>C
XR_941604.1:n.4109T>C
NM_001330578.1:c.3656T>C	NP_001317507.1:p.Val1219Ala
NM_001330579.1:c.3638T>C	NP_001317508.1:p.Val1213Ala
XM_005266424.4:c.3794T>C	XP_005266481.1:p.Val1265Ala
XM_005266430.4:c.3890T>C	XP_005266487.1:p.Val1297Ala
XM_005266431.4:c.3854T>C	XP_005266488.1:p.Val1285Ala
XM_006719837.3:c.3794T>C	XP_006719900.1:p.Val1265Ala
XM_011535117.3:c.3794T>C	XP_011533419.1:p.Val1265Ala
XM_017020627.1:c.3794T>C	XP_016876116.1:p.Val1265Ala
NM_000053.4:c.3890T>C MANE Select	NP_000044.2:p.Val1297Ala
NM_001005918.3:c.3269T>C	NP_001005918.1:p.Val1090Ala
NM_001330579.2:c.3638T>C	NP_001317508.1:p.Val1213Ala
NM_001243182.2:c.3557T>C	NP_001230111.1:p.Val1186Ala
NM_001330578.2:c.3656T>C	NP_001317507.1:p.Val1219Ala