Canonical Allele Identifier: CA388029850

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944139-C-G
• MyVariant Identifiers: chr13:g.52518275C>G (hg19) ; chr13:g.51944139C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944139C>G , CM000675.2:g.51944139C>G	GRCh38
NC_000013.10:g.52518275C>G , CM000675.1:g.52518275C>G	GRCh37
NC_000013.9:g.51416276C>G	NCBI36
NG_008806.1:g.72356G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1585G>C	ENSP00000489512.2:n.*894-1585G>C
ENST00000673864.2:c.*1957G>C	ENSP00000501045.2:n.*1957G>C
ENST00000674147.2:c.2592G>C	ENSP00000500964.2:p.Leu864Phe
ENST00000242839.10:c.3213G>C MANE Select	ENSP00000242839.5:p.Leu1071Phe
ENST00000344297.9:c.2592G>C	ENSP00000342559.5:p.Leu864Phe
ENST00000400366.6:c.2880G>C	ENSP00000383217.3:p.Leu960Phe
ENST00000448424.7:c.2961G>C	ENSP00000416738.3:p.Leu987Phe
ENST00000673772.1:c.2979G>C	ENSP00000501168.1:p.Leu993Phe
ENST00000673867.1:n.3352G>C
ENST00000674126.1:n.3576G>C
ENST00000674147.1:c.2148G>C	ENSP00000500964.1:p.Leu716Phe
ENST00000242839.8:c.3213G>C	ENSP00000242839.4:p.Leu1071Phe
ENST00000344297.8:c.2592G>C	ENSP00000342559.5:p.Leu864Phe
ENST00000400366.5:c.2880G>C	ENSP00000383217.3:p.Leu960Phe
ENST00000400370.8:c.1923G>C	ENSP00000383221.3:p.Leu641Phe
ENST00000418097.7:c.3018G>C	ENSP00000393343.2:p.Leu1006Phe
ENST00000448424.6:c.2979G>C	ENSP00000416738.2:p.Leu993Phe
ENST00000466629.1:n.433G>C
ENST00000634296.1:c.1022-1585G>C
ENST00000634308.1:c.*314G>C	ENSP00000489234.1:n.*314G>C
ENST00000634620.1:n.3957G>C
ENST00000634810.1:n.2558G>C
ENST00000634844.1:c.3069G>C	ENSP00000489398.1:p.Leu1023Phe
NM_000053.3:c.3213G>C	NP_000044.2:p.Leu1071Phe
NM_001005918.2:c.2592G>C	NP_001005918.1:p.Leu864Phe
NM_001243182.1:c.2880G>C	NP_001230111.1:p.Leu960Phe
XM_005266423.2:c.3117G>C	XP_005266480.1:p.Leu1039Phe
XM_005266424.3:c.3117G>C	XP_005266481.1:p.Leu1039Phe
XM_005266427.2:c.2979G>C	XP_005266484.1:p.Leu993Phe
XM_005266428.1:c.2961G>C	XP_005266485.1:p.Leu987Phe
XM_005266430.3:c.3213G>C	XP_005266487.1:p.Leu1071Phe
XM_005266431.2:c.3177G>C	XP_005266488.1:p.Leu1059Phe
XM_005266432.2:c.2727G>C	XP_005266489.1:p.Leu909Phe
XM_006719837.2:c.3117G>C	XP_006719900.1:p.Leu1039Phe
XM_006719838.1:c.1029G>C	XP_006719901.1:p.Leu343Phe
XM_006719839.1:c.877-1585G>C	XP_006719902.1:n.877-1585G>C
XM_011535117.1:c.3117G>C	XP_011533419.1:p.Leu1039Phe
XM_011535118.1:c.3078G>C	XP_011533420.1:p.Leu1026Phe
XM_011535119.1:c.3061-1585G>C	XP_011533421.1:n.3061-1585G>C
XM_011535120.1:c.2799G>C	XP_011533422.1:p.Leu933Phe
XM_011535121.1:c.2731-1585G>C	XP_011533423.1:n.2731-1585G>C
XM_011535122.1:c.1881G>C	XP_011533424.1:p.Leu627Phe
XR_941601.1:n.3432G>C
XR_941602.1:n.3432G>C
XR_941603.1:n.3432G>C
XR_941604.1:n.3432G>C
NM_001330578.1:c.2979G>C	NP_001317507.1:p.Leu993Phe
NM_001330579.1:c.2961G>C	NP_001317508.1:p.Leu987Phe
XM_005266424.4:c.3117G>C	XP_005266481.1:p.Leu1039Phe
XM_005266430.4:c.3213G>C	XP_005266487.1:p.Leu1071Phe
XM_005266431.4:c.3177G>C	XP_005266488.1:p.Leu1059Phe
XM_006719837.3:c.3117G>C	XP_006719900.1:p.Leu1039Phe
XM_011535117.3:c.3117G>C	XP_011533419.1:p.Leu1039Phe
XM_017020627.1:c.3117G>C	XP_016876116.1:p.Leu1039Phe
NM_000053.4:c.3213G>C MANE Select	NP_000044.2:p.Leu1071Phe
NM_001005918.3:c.2592G>C	NP_001005918.1:p.Leu864Phe
NM_001330579.2:c.2961G>C	NP_001317508.1:p.Leu987Phe
NM_001243182.2:c.2880G>C	NP_001230111.1:p.Leu960Phe
NM_001330578.2:c.2979G>C	NP_001317507.1:p.Leu993Phe