Canonical Allele Identifier: CA388026093

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941113-T-C
• MyVariant Identifiers: chr13:g.52515249T>C (hg19) ; chr13:g.51941113T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941113T>C , CM000675.2:g.51941113T>C	GRCh38
NC_000013.10:g.52515249T>C , CM000675.1:g.52515249T>C	GRCh37
NC_000013.9:g.51413250T>C	NCBI36
NG_008806.1:g.75382A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1174A>G	ENSP00000489512.2:n.*1174A>G
ENST00000673864.2:c.*2268A>G	ENSP00000501045.2:n.*2268A>G
ENST00000674147.2:c.2903A>G	ENSP00000500964.2:p.Lys968Arg
ENST00000242839.10:c.3524A>G MANE Select	ENSP00000242839.5:p.Lys1175Arg
ENST00000344297.9:c.2903A>G	ENSP00000342559.5:p.Lys968Arg
ENST00000400366.6:c.3191A>G	ENSP00000383217.3:p.Lys1064Arg
ENST00000448424.7:c.3272A>G	ENSP00000416738.3:p.Lys1091Arg
ENST00000673772.1:c.3290A>G	ENSP00000501168.1:p.Lys1097Arg
ENST00000673867.1:n.3663A>G
ENST00000674126.1:n.3887A>G
ENST00000674147.1:c.2459A>G	ENSP00000500964.1:p.Lys820Arg
ENST00000242839.8:c.3524A>G	ENSP00000242839.4:p.Lys1175Arg
ENST00000344297.8:c.2903A>G	ENSP00000342559.5:p.Lys968Arg
ENST00000400366.5:c.3191A>G	ENSP00000383217.3:p.Lys1064Arg
ENST00000400370.8:c.2234A>G	ENSP00000383221.3:p.Lys745Arg
ENST00000418097.7:c.3329A>G	ENSP00000393343.2:p.Lys1110Arg
ENST00000448424.6:c.3290A>G	ENSP00000416738.2:p.Lys1097Arg
ENST00000634296.1:c.1302A>G
ENST00000634308.1:c.*625A>G	ENSP00000489234.1:n.*625A>G
ENST00000634620.1:n.4268A>G
ENST00000634810.1:n.2869A>G
ENST00000634844.1:c.3380A>G	ENSP00000489398.1:p.Lys1127Arg
NM_000053.3:c.3524A>G	NP_000044.2:p.Lys1175Arg
NM_001005918.2:c.2903A>G	NP_001005918.1:p.Lys968Arg
NM_001243182.1:c.3191A>G	NP_001230111.1:p.Lys1064Arg
XM_005266423.2:c.3428A>G	XP_005266480.1:p.Lys1143Arg
XM_005266424.3:c.3428A>G	XP_005266481.1:p.Lys1143Arg
XM_005266427.2:c.3290A>G	XP_005266484.1:p.Lys1097Arg
XM_005266428.1:c.3272A>G	XP_005266485.1:p.Lys1091Arg
XM_005266430.3:c.3524A>G	XP_005266487.1:p.Lys1175Arg
XM_005266431.2:c.3488A>G	XP_005266488.1:p.Lys1163Arg
XM_005266432.2:c.3038A>G	XP_005266489.1:p.Lys1013Arg
XM_006719837.2:c.3428A>G	XP_006719900.1:p.Lys1143Arg
XM_006719838.1:c.1340A>G	XP_006719901.1:p.Lys447Arg
XM_006719839.1:c.1157A>G	XP_006719902.1:p.Lys386Arg
XM_011535117.1:c.3428A>G	XP_011533419.1:p.Lys1143Arg
XM_011535118.1:c.3389A>G	XP_011533420.1:p.Lys1130Arg
XM_011535119.1:c.3341A>G	XP_011533421.1:p.Lys1114Arg
XM_011535120.1:c.3110A>G	XP_011533422.1:p.Lys1037Arg
XM_011535121.1:c.3011A>G	XP_011533423.1:p.Lys1004Arg
XM_011535122.1:c.2192A>G	XP_011533424.1:p.Lys731Arg
XR_941601.1:n.3743A>G
XR_941602.1:n.3743A>G
XR_941603.1:n.3743A>G
XR_941604.1:n.3743A>G
NM_001330578.1:c.3290A>G	NP_001317507.1:p.Lys1097Arg
NM_001330579.1:c.3272A>G	NP_001317508.1:p.Lys1091Arg
XM_005266424.4:c.3428A>G	XP_005266481.1:p.Lys1143Arg
XM_005266430.4:c.3524A>G	XP_005266487.1:p.Lys1175Arg
XM_005266431.4:c.3488A>G	XP_005266488.1:p.Lys1163Arg
XM_006719837.3:c.3428A>G	XP_006719900.1:p.Lys1143Arg
XM_011535117.3:c.3428A>G	XP_011533419.1:p.Lys1143Arg
XM_017020627.1:c.3428A>G	XP_016876116.1:p.Lys1143Arg
NM_000053.4:c.3524A>G MANE Select	NP_000044.2:p.Lys1175Arg
NM_001005918.3:c.2903A>G	NP_001005918.1:p.Lys968Arg
NM_001330579.2:c.3272A>G	NP_001317508.1:p.Lys1091Arg
NM_001243182.2:c.3191A>G	NP_001230111.1:p.Lys1064Arg
NM_001330578.2:c.3290A>G	NP_001317507.1:p.Lys1097Arg