Canonical Allele Identifier: CA388024614

Gene: ATP7B

Linked Data

• dbSNP Id: rs1469278742
• gnomAD v2: 13-52513308-G-A
• gnomAD v4: 13-51939172-G-A
• MyVariant Identifiers: chr13:g.52513308G>A (hg19) ; chr13:g.51939172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939172G>A , CM000675.2:g.51939172G>A	GRCh38
NC_000013.10:g.52513308G>A , CM000675.1:g.52513308G>A	GRCh37
NC_000013.9:g.51411309G>A	NCBI36
NG_008806.1:g.77323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1228C>T	ENSP00000489512.2:n.*1228C>T
ENST00000673864.2:c.*2322C>T	ENSP00000501045.2:n.*2322C>T
ENST00000674147.2:c.2957C>T	ENSP00000500964.2:p.Ala986Val
ENST00000242839.10:c.3578C>T MANE Select	ENSP00000242839.5:p.Ala1193Val
ENST00000344297.9:c.2957C>T	ENSP00000342559.5:p.Ala986Val
ENST00000400366.6:c.3245C>T	ENSP00000383217.3:p.Ala1082Val
ENST00000448424.7:c.3326C>T	ENSP00000416738.3:p.Ala1109Val
ENST00000673696.1:n.819C>T
ENST00000673772.1:c.3344C>T	ENSP00000501168.1:p.Ala1115Val
ENST00000673867.1:n.3717C>T
ENST00000673923.1:n.444C>T
ENST00000674147.1:c.2513C>T	ENSP00000500964.1:p.Ala838Val
ENST00000242839.8:c.3578C>T	ENSP00000242839.4:p.Ala1193Val
ENST00000344297.8:c.2957C>T	ENSP00000342559.5:p.Ala986Val
ENST00000400366.5:c.3245C>T	ENSP00000383217.3:p.Ala1082Val
ENST00000400370.8:c.2288C>T	ENSP00000383221.3:p.Ala763Val
ENST00000418097.7:c.3383C>T	ENSP00000393343.2:p.Ala1128Val
ENST00000448424.6:c.3344C>T	ENSP00000416738.2:p.Ala1115Val
ENST00000634296.1:c.1356C>T
ENST00000634308.1:c.*679C>T	ENSP00000489234.1:n.*679C>T
ENST00000634620.1:n.4322C>T
ENST00000634810.1:n.2923C>T
ENST00000634844.1:c.3434C>T	ENSP00000489398.1:p.Ala1145Val
NM_000053.3:c.3578C>T	NP_000044.2:p.Ala1193Val
NM_001005918.2:c.2957C>T	NP_001005918.1:p.Ala986Val
NM_001243182.1:c.3245C>T	NP_001230111.1:p.Ala1082Val
XM_005266423.2:c.3482C>T	XP_005266480.1:p.Ala1161Val
XM_005266424.3:c.3482C>T	XP_005266481.1:p.Ala1161Val
XM_005266427.2:c.3344C>T	XP_005266484.1:p.Ala1115Val
XM_005266428.1:c.3326C>T	XP_005266485.1:p.Ala1109Val
XM_005266430.3:c.3578C>T	XP_005266487.1:p.Ala1193Val
XM_005266431.2:c.3542C>T	XP_005266488.1:p.Ala1181Val
XM_005266432.2:c.3092C>T	XP_005266489.1:p.Ala1031Val
XM_006719837.2:c.3482C>T	XP_006719900.1:p.Ala1161Val
XM_006719838.1:c.1394C>T	XP_006719901.1:p.Ala465Val
XM_006719839.1:c.1211C>T	XP_006719902.1:p.Ala404Val
XM_011535117.1:c.3482C>T	XP_011533419.1:p.Ala1161Val
XM_011535118.1:c.3443C>T	XP_011533420.1:p.Ala1148Val
XM_011535119.1:c.3395C>T	XP_011533421.1:p.Ala1132Val
XM_011535120.1:c.3164C>T	XP_011533422.1:p.Ala1055Val
XM_011535121.1:c.3065C>T	XP_011533423.1:p.Ala1022Val
XM_011535122.1:c.2246C>T	XP_011533424.1:p.Ala749Val
XR_941601.1:n.3797C>T
XR_941602.1:n.3797C>T
XR_941603.1:n.3797C>T
XR_941604.1:n.3797C>T
NM_001330578.1:c.3344C>T	NP_001317507.1:p.Ala1115Val
NM_001330579.1:c.3326C>T	NP_001317508.1:p.Ala1109Val
XM_005266424.4:c.3482C>T	XP_005266481.1:p.Ala1161Val
XM_005266430.4:c.3578C>T	XP_005266487.1:p.Ala1193Val
XM_005266431.4:c.3542C>T	XP_005266488.1:p.Ala1181Val
XM_006719837.3:c.3482C>T	XP_006719900.1:p.Ala1161Val
XM_011535117.3:c.3482C>T	XP_011533419.1:p.Ala1161Val
XM_017020627.1:c.3482C>T	XP_016876116.1:p.Ala1161Val
NM_000053.4:c.3578C>T MANE Select	NP_000044.2:p.Ala1193Val
NM_001005918.3:c.2957C>T	NP_001005918.1:p.Ala986Val
NM_001330579.2:c.3326C>T	NP_001317508.1:p.Ala1109Val
NM_001243182.2:c.3245C>T	NP_001230111.1:p.Ala1082Val
NM_001330578.2:c.3344C>T	NP_001317507.1:p.Ala1115Val