Canonical Allele Identifier: CA388021398

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937487-C-G
• MyVariant Identifiers: chr13:g.52511623C>G (hg19) ; chr13:g.51937487C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937487C>G , CM000675.2:g.51937487C>G	GRCh38
NC_000013.10:g.52511623C>G , CM000675.1:g.52511623C>G	GRCh37
NC_000013.9:g.51409624C>G	NCBI36
NG_008806.1:g.79008G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1542G>C	ENSP00000489512.2:n.*1542G>C
ENST00000673864.2:c.*2636G>C	ENSP00000501045.2:n.*2636G>C
ENST00000674147.2:c.3271G>C	ENSP00000500964.2:p.Val1091Leu
ENST00000242839.10:c.3892G>C MANE Select	ENSP00000242839.5:p.Val1298Leu
ENST00000344297.9:c.3271G>C	ENSP00000342559.5:p.Val1091Leu
ENST00000400366.6:c.3559G>C	ENSP00000383217.3:p.Val1187Leu
ENST00000448424.7:c.3640G>C	ENSP00000416738.3:p.Val1214Leu
ENST00000673696.1:n.1133G>C
ENST00000673772.1:c.3658G>C	ENSP00000501168.1:p.Val1220Leu
ENST00000673867.1:n.4031G>C
ENST00000673923.1:n.758G>C
ENST00000674147.1:c.2827G>C	ENSP00000500964.1:p.Val943Leu
ENST00000242839.8:c.3892G>C	ENSP00000242839.4:p.Val1298Leu
ENST00000344297.8:c.3271G>C	ENSP00000342559.5:p.Val1091Leu
ENST00000400366.5:c.3559G>C	ENSP00000383217.3:p.Val1187Leu
ENST00000400370.8:c.2602G>C	ENSP00000383221.3:p.Val868Leu
ENST00000418097.7:c.3697G>C	ENSP00000393343.2:p.Val1233Leu
ENST00000448424.6:c.3658G>C	ENSP00000416738.2:p.Val1220Leu
ENST00000634296.1:c.1670G>C
ENST00000634308.1:c.*993G>C	ENSP00000489234.1:n.*993G>C
ENST00000634620.1:n.4636G>C
ENST00000634810.1:n.3237G>C
ENST00000634844.1:c.3748G>C	ENSP00000489398.1:p.Val1250Leu
NM_000053.3:c.3892G>C	NP_000044.2:p.Val1298Leu
NM_001005918.2:c.3271G>C	NP_001005918.1:p.Val1091Leu
NM_001243182.1:c.3559G>C	NP_001230111.1:p.Val1187Leu
XM_005266423.2:c.3796G>C	XP_005266480.1:p.Val1266Leu
XM_005266424.3:c.3796G>C	XP_005266481.1:p.Val1266Leu
XM_005266427.2:c.3658G>C	XP_005266484.1:p.Val1220Leu
XM_005266428.1:c.3640G>C	XP_005266485.1:p.Val1214Leu
XM_005266430.3:c.3892G>C	XP_005266487.1:p.Val1298Leu
XM_005266431.2:c.3856G>C	XP_005266488.1:p.Val1286Leu
XM_005266432.2:c.3406G>C	XP_005266489.1:p.Val1136Leu
XM_006719837.2:c.3796G>C	XP_006719900.1:p.Val1266Leu
XM_006719838.1:c.1708G>C	XP_006719901.1:p.Val570Leu
XM_006719839.1:c.1525G>C	XP_006719902.1:p.Val509Leu
XM_011535117.1:c.3796G>C	XP_011533419.1:p.Val1266Leu
XM_011535118.1:c.3757G>C	XP_011533420.1:p.Val1253Leu
XM_011535119.1:c.3709G>C	XP_011533421.1:p.Val1237Leu
XM_011535120.1:c.3478G>C	XP_011533422.1:p.Val1160Leu
XM_011535121.1:c.3379G>C	XP_011533423.1:p.Val1127Leu
XM_011535122.1:c.2560G>C	XP_011533424.1:p.Val854Leu
XR_941601.1:n.4111G>C
XR_941602.1:n.4111G>C
XR_941603.1:n.4111G>C
XR_941604.1:n.4111G>C
NM_001330578.1:c.3658G>C	NP_001317507.1:p.Val1220Leu
NM_001330579.1:c.3640G>C	NP_001317508.1:p.Val1214Leu
XM_005266424.4:c.3796G>C	XP_005266481.1:p.Val1266Leu
XM_005266430.4:c.3892G>C	XP_005266487.1:p.Val1298Leu
XM_005266431.4:c.3856G>C	XP_005266488.1:p.Val1286Leu
XM_006719837.3:c.3796G>C	XP_006719900.1:p.Val1266Leu
XM_011535117.3:c.3796G>C	XP_011533419.1:p.Val1266Leu
XM_017020627.1:c.3796G>C	XP_016876116.1:p.Val1266Leu
NM_000053.4:c.3892G>C MANE Select	NP_000044.2:p.Val1298Leu
NM_001005918.3:c.3271G>C	NP_001005918.1:p.Val1091Leu
NM_001330579.2:c.3640G>C	NP_001317508.1:p.Val1214Leu
NM_001243182.2:c.3559G>C	NP_001230111.1:p.Val1187Leu
NM_001330578.2:c.3658G>C	NP_001317507.1:p.Val1220Leu