Canonical Allele Identifier: CA483894144

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941196-C-G
• MyVariant Identifiers: chr13:g.52515332C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941196C>G , CM000675.2:g.51941196C>G	GRCh38
NC_000013.10:g.52515332C>G , CM000675.1:g.52515332C>G	GRCh37
NC_000013.9:g.51413333C>G	NCBI36
NG_008806.1:g.75299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1091G>C	ENSP00000489512.2:n.*1091G>C
ENST00000673864.2:c.*2185G>C	ENSP00000501045.2:n.*2185G>C
ENST00000674147.2:c.2820G>C	ENSP00000500964.2:p.Leu940=
ENST00000242839.10:c.3441G>C MANE Select	ENSP00000242839.5:p.Leu1147=
ENST00000344297.9:c.2820G>C	ENSP00000342559.5:p.Leu940=
ENST00000400366.6:c.3108G>C	ENSP00000383217.3:p.Leu1036=
ENST00000448424.7:c.3189G>C	ENSP00000416738.3:p.Leu1063=
ENST00000673772.1:c.3207G>C	ENSP00000501168.1:p.Leu1069=
ENST00000673867.1:n.3580G>C
ENST00000674126.1:n.3804G>C
ENST00000674147.1:c.2376G>C	ENSP00000500964.1:p.Leu792=
ENST00000242839.8:c.3441G>C	ENSP00000242839.4:p.Leu1147=
ENST00000344297.8:c.2820G>C	ENSP00000342559.5:p.Leu940=
ENST00000400366.5:c.3108G>C	ENSP00000383217.3:p.Leu1036=
ENST00000400370.8:c.2151G>C	ENSP00000383221.3:p.Leu717=
ENST00000418097.7:c.3246G>C	ENSP00000393343.2:p.Leu1082=
ENST00000448424.6:c.3207G>C	ENSP00000416738.2:p.Leu1069=
ENST00000634296.1:c.1219G>C
ENST00000634308.1:c.*542G>C	ENSP00000489234.1:n.*542G>C
ENST00000634620.1:n.4185G>C
ENST00000634810.1:n.2786G>C
ENST00000634844.1:c.3297G>C	ENSP00000489398.1:p.Leu1099=
NM_000053.3:c.3441G>C	NP_000044.2:p.Leu1147=
NM_001005918.2:c.2820G>C	NP_001005918.1:p.Leu940=
NM_001243182.1:c.3108G>C	NP_001230111.1:p.Leu1036=
XM_005266423.2:c.3345G>C	XP_005266480.1:p.Leu1115=
XM_005266424.3:c.3345G>C	XP_005266481.1:p.Leu1115=
XM_005266427.2:c.3207G>C	XP_005266484.1:p.Leu1069=
XM_005266428.1:c.3189G>C	XP_005266485.1:p.Leu1063=
XM_005266430.3:c.3441G>C	XP_005266487.1:p.Leu1147=
XM_005266431.2:c.3405G>C	XP_005266488.1:p.Leu1135=
XM_005266432.2:c.2955G>C	XP_005266489.1:p.Leu985=
XM_006719837.2:c.3345G>C	XP_006719900.1:p.Leu1115=
XM_006719838.1:c.1257G>C	XP_006719901.1:p.Leu419=
XM_006719839.1:c.1074G>C	XP_006719902.1:p.Leu358=
XM_011535117.1:c.3345G>C	XP_011533419.1:p.Leu1115=
XM_011535118.1:c.3306G>C	XP_011533420.1:p.Leu1102=
XM_011535119.1:c.3258G>C	XP_011533421.1:p.Leu1086=
XM_011535120.1:c.3027G>C	XP_011533422.1:p.Leu1009=
XM_011535121.1:c.2928G>C	XP_011533423.1:p.Leu976=
XM_011535122.1:c.2109G>C	XP_011533424.1:p.Leu703=
XR_941601.1:n.3660G>C
XR_941602.1:n.3660G>C
XR_941603.1:n.3660G>C
XR_941604.1:n.3660G>C
NM_001330578.1:c.3207G>C	NP_001317507.1:p.Leu1069=
NM_001330579.1:c.3189G>C	NP_001317508.1:p.Leu1063=
XM_005266424.4:c.3345G>C	XP_005266481.1:p.Leu1115=
XM_005266430.4:c.3441G>C	XP_005266487.1:p.Leu1147=
XM_005266431.4:c.3405G>C	XP_005266488.1:p.Leu1135=
XM_006719837.3:c.3345G>C	XP_006719900.1:p.Leu1115=
XM_011535117.3:c.3345G>C	XP_011533419.1:p.Leu1115=
XM_017020627.1:c.3345G>C	XP_016876116.1:p.Leu1115=
NM_000053.4:c.3441G>C MANE Select	NP_000044.2:p.Leu1147=
NM_001005918.3:c.2820G>C	NP_001005918.1:p.Leu940=
NM_001330579.2:c.3189G>C	NP_001317508.1:p.Leu1063=
NM_001243182.2:c.3108G>C	NP_001230111.1:p.Leu1036=
NM_001330578.2:c.3207G>C	NP_001317507.1:p.Leu1069=