Canonical Allele Identifier: CA388032582

Gene: ATP7B

Linked Data

• dbSNP Id: rs1419670192
• gnomAD v2: 13-52520610-G-T
• gnomAD v4: 13-51946474-G-T
• MyVariant Identifiers: chr13:g.52520610G>T (hg19) ; chr13:g.51946474G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946474G>T , CM000675.2:g.51946474G>T	GRCh38
NC_000013.10:g.52520610G>T , CM000675.1:g.52520610G>T	GRCh37
NC_000013.9:g.51418611G>T	NCBI36
NG_008806.1:g.70021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*703C>A	ENSP00000489512.2:n.*703C>A
ENST00000673864.2:c.*1614C>A	ENSP00000501045.2:n.*1614C>A
ENST00000674147.2:c.2249C>A	ENSP00000500964.2:p.Pro750His
ENST00000242839.10:c.2870C>A MANE Select	ENSP00000242839.5:p.Pro957His
ENST00000344297.9:c.2249C>A	ENSP00000342559.5:p.Pro750His
ENST00000400366.6:c.2537C>A	ENSP00000383217.3:p.Pro846His
ENST00000448424.7:c.2618C>A	ENSP00000416738.3:p.Pro873His
ENST00000673772.1:c.2636C>A	ENSP00000501168.1:p.Pro879His
ENST00000673867.1:n.1017C>A
ENST00000674126.1:n.3233C>A
ENST00000674147.1:c.1805C>A	ENSP00000500964.1:p.Pro602His
ENST00000242839.8:c.2870C>A	ENSP00000242839.4:p.Pro957His
ENST00000344297.8:c.2249C>A	ENSP00000342559.5:p.Pro750His
ENST00000400366.5:c.2537C>A	ENSP00000383217.3:p.Pro846His
ENST00000400370.8:c.1580C>A	ENSP00000383221.3:p.Pro527His
ENST00000418097.7:c.2866-2183C>A	ENSP00000393343.2:n.2866-2183C>A
ENST00000448424.6:c.2636C>A	ENSP00000416738.2:p.Pro879His
ENST00000466629.1:n.90C>A
ENST00000634296.1:c.831C>A
ENST00000634308.1:c.2656C>A	ENSP00000489234.1:p.Pro886Thr
ENST00000634620.1:n.3614C>A
ENST00000634810.1:n.2215C>A
ENST00000634844.1:c.2726C>A	ENSP00000489398.1:p.Pro909His
ENST00000635406.1:n.216C>A
NM_000053.3:c.2870C>A	NP_000044.2:p.Pro957His
NM_001005918.2:c.2249C>A	NP_001005918.1:p.Pro750His
NM_001243182.1:c.2537C>A	NP_001230111.1:p.Pro846His
XM_005266423.2:c.2774C>A	XP_005266480.1:p.Pro925His
XM_005266424.3:c.2774C>A	XP_005266481.1:p.Pro925His
XM_005266427.2:c.2636C>A	XP_005266484.1:p.Pro879His
XM_005266428.1:c.2618C>A	XP_005266485.1:p.Pro873His
XM_005266430.3:c.2870C>A	XP_005266487.1:p.Pro957His
XM_005266431.2:c.2834C>A	XP_005266488.1:p.Pro945His
XM_005266432.2:c.2384C>A	XP_005266489.1:p.Pro795His
XM_006719837.2:c.2774C>A	XP_006719900.1:p.Pro925His
XM_006719838.1:c.686C>A	XP_006719901.1:p.Pro229His
XM_006719839.1:c.686C>A	XP_006719902.1:p.Pro229His
XM_011535117.1:c.2774C>A	XP_011533419.1:p.Pro925His
XM_011535118.1:c.2735C>A	XP_011533420.1:p.Pro912His
XM_011535119.1:c.2870C>A	XP_011533421.1:p.Pro957His
XM_011535120.1:c.2456C>A	XP_011533422.1:p.Pro819His
XM_011535121.1:c.2730+3533C>A	XP_011533423.1:n.2730+3533C>A
XM_011535122.1:c.1538C>A	XP_011533424.1:p.Pro513His
XR_941601.1:n.3089C>A
XR_941602.1:n.3089C>A
XR_941603.1:n.3089C>A
XR_941604.1:n.3089C>A
NM_001330578.1:c.2636C>A	NP_001317507.1:p.Pro879His
NM_001330579.1:c.2618C>A	NP_001317508.1:p.Pro873His
XM_005266424.4:c.2774C>A	XP_005266481.1:p.Pro925His
XM_005266430.4:c.2870C>A	XP_005266487.1:p.Pro957His
XM_005266431.4:c.2834C>A	XP_005266488.1:p.Pro945His
XM_006719837.3:c.2774C>A	XP_006719900.1:p.Pro925His
XM_011535117.3:c.2774C>A	XP_011533419.1:p.Pro925His
XM_017020627.1:c.2774C>A	XP_016876116.1:p.Pro925His
NM_000053.4:c.2870C>A MANE Select	NP_000044.2:p.Pro957His
NM_001005918.3:c.2249C>A	NP_001005918.1:p.Pro750His
NM_001330579.2:c.2618C>A	NP_001317508.1:p.Pro873His
NM_001243182.2:c.2537C>A	NP_001230111.1:p.Pro846His
NM_001330578.2:c.2636C>A	NP_001317507.1:p.Pro879His