Canonical Allele Identifier: CA250077133

Gene: ATP7B

Linked Data

• dbSNP Id: rs940997440
• gnomAD v3: 13-51941113-T-G
• gnomAD v4: 13-51941113-T-G
• MyVariant Identifiers: chr13:g.52515249T>G (hg19) ; chr13:g.51941113T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1174A>C	ENSP00000489512.2:n.*1174A>C
ENST00000673864.2:c.*2268A>C	ENSP00000501045.2:n.*2268A>C
ENST00000674147.2:c.2903A>C	ENSP00000500964.2:p.Lys968Thr
ENST00000242839.10:c.3524A>C MANE Select	ENSP00000242839.5:p.Lys1175Thr
ENST00000344297.9:c.2903A>C	ENSP00000342559.5:p.Lys968Thr
ENST00000400366.6:c.3191A>C	ENSP00000383217.3:p.Lys1064Thr
ENST00000448424.7:c.3272A>C	ENSP00000416738.3:p.Lys1091Thr
ENST00000673772.1:c.3290A>C	ENSP00000501168.1:p.Lys1097Thr
ENST00000673867.1:n.3663A>C
ENST00000674126.1:n.3887A>C
ENST00000674147.1:c.2459A>C	ENSP00000500964.1:p.Lys820Thr
ENST00000242839.8:c.3524A>C	ENSP00000242839.4:p.Lys1175Thr
ENST00000344297.8:c.2903A>C	ENSP00000342559.5:p.Lys968Thr
ENST00000400366.5:c.3191A>C	ENSP00000383217.3:p.Lys1064Thr
ENST00000400370.8:c.2234A>C	ENSP00000383221.3:p.Lys745Thr
ENST00000418097.7:c.3329A>C	ENSP00000393343.2:p.Lys1110Thr
ENST00000448424.6:c.3290A>C	ENSP00000416738.2:p.Lys1097Thr
ENST00000634296.1:c.1302A>C
ENST00000634308.1:c.*625A>C	ENSP00000489234.1:n.*625A>C
ENST00000634620.1:n.4268A>C
ENST00000634810.1:n.2869A>C
ENST00000634844.1:c.3380A>C	ENSP00000489398.1:p.Lys1127Thr
NM_000053.3:c.3524A>C	NP_000044.2:p.Lys1175Thr
NM_001005918.2:c.2903A>C	NP_001005918.1:p.Lys968Thr
NM_001243182.1:c.3191A>C	NP_001230111.1:p.Lys1064Thr
XM_005266423.2:c.3428A>C	XP_005266480.1:p.Lys1143Thr
XM_005266424.3:c.3428A>C	XP_005266481.1:p.Lys1143Thr
XM_005266427.2:c.3290A>C	XP_005266484.1:p.Lys1097Thr
XM_005266428.1:c.3272A>C	XP_005266485.1:p.Lys1091Thr
XM_005266430.3:c.3524A>C	XP_005266487.1:p.Lys1175Thr
XM_005266431.2:c.3488A>C	XP_005266488.1:p.Lys1163Thr
XM_005266432.2:c.3038A>C	XP_005266489.1:p.Lys1013Thr
XM_006719837.2:c.3428A>C	XP_006719900.1:p.Lys1143Thr
XM_006719838.1:c.1340A>C	XP_006719901.1:p.Lys447Thr
XM_006719839.1:c.1157A>C	XP_006719902.1:p.Lys386Thr
XM_011535117.1:c.3428A>C	XP_011533419.1:p.Lys1143Thr
XM_011535118.1:c.3389A>C	XP_011533420.1:p.Lys1130Thr
XM_011535119.1:c.3341A>C	XP_011533421.1:p.Lys1114Thr
XM_011535120.1:c.3110A>C	XP_011533422.1:p.Lys1037Thr
XM_011535121.1:c.3011A>C	XP_011533423.1:p.Lys1004Thr
XM_011535122.1:c.2192A>C	XP_011533424.1:p.Lys731Thr
XR_941601.1:n.3743A>C
XR_941602.1:n.3743A>C
XR_941603.1:n.3743A>C
XR_941604.1:n.3743A>C
NM_001330578.1:c.3290A>C	NP_001317507.1:p.Lys1097Thr
NM_001330579.1:c.3272A>C	NP_001317508.1:p.Lys1091Thr
XM_005266424.4:c.3428A>C	XP_005266481.1:p.Lys1143Thr
XM_005266430.4:c.3524A>C	XP_005266487.1:p.Lys1175Thr
XM_005266431.4:c.3488A>C	XP_005266488.1:p.Lys1163Thr
XM_006719837.3:c.3428A>C	XP_006719900.1:p.Lys1143Thr
XM_011535117.3:c.3428A>C	XP_011533419.1:p.Lys1143Thr
XM_017020627.1:c.3428A>C	XP_016876116.1:p.Lys1143Thr
NM_000053.4:c.3524A>C MANE Select	NP_000044.2:p.Lys1175Thr
NM_001005918.3:c.2903A>C	NP_001005918.1:p.Lys968Thr
NM_001330579.2:c.3272A>C	NP_001317508.1:p.Lys1091Thr
NM_001243182.2:c.3191A>C	NP_001230111.1:p.Lys1064Thr
NM_001330578.2:c.3290A>C	NP_001317507.1:p.Lys1097Thr