Canonical Allele Identifier: CA388028471

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51942487-C-G
• MyVariant Identifiers: chr13:g.52516623C>G (hg19) ; chr13:g.51942487C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942487C>G , CM000675.2:g.51942487C>G	GRCh38
NC_000013.10:g.52516623C>G , CM000675.1:g.52516623C>G	GRCh37
NC_000013.9:g.51414624C>G	NCBI36
NG_008806.1:g.74008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*961G>C	ENSP00000489512.2:n.*961G>C
ENST00000673864.2:c.*2055G>C	ENSP00000501045.2:n.*2055G>C
ENST00000674147.2:c.2690G>C	ENSP00000500964.2:p.Cys897Ser
ENST00000242839.10:c.3311G>C MANE Select	ENSP00000242839.5:p.Cys1104Ser
ENST00000344297.9:c.2690G>C	ENSP00000342559.5:p.Cys897Ser
ENST00000400366.6:c.2978G>C	ENSP00000383217.3:p.Cys993Ser
ENST00000448424.7:c.3059G>C	ENSP00000416738.3:p.Cys1020Ser
ENST00000673772.1:c.3077G>C	ENSP00000501168.1:p.Cys1026Ser
ENST00000673867.1:n.3450G>C
ENST00000674126.1:n.3674G>C
ENST00000674147.1:c.2246G>C	ENSP00000500964.1:p.Cys749Ser
ENST00000242839.8:c.3311G>C	ENSP00000242839.4:p.Cys1104Ser
ENST00000344297.8:c.2690G>C	ENSP00000342559.5:p.Cys897Ser
ENST00000400366.5:c.2978G>C	ENSP00000383217.3:p.Cys993Ser
ENST00000400370.8:c.2021G>C	ENSP00000383221.3:p.Cys674Ser
ENST00000418097.7:c.3116G>C	ENSP00000393343.2:p.Cys1039Ser
ENST00000448424.6:c.3077G>C	ENSP00000416738.2:p.Cys1026Ser
ENST00000634296.1:c.1089G>C
ENST00000634308.1:c.*412G>C	ENSP00000489234.1:n.*412G>C
ENST00000634620.1:n.4055G>C
ENST00000634810.1:n.2656G>C
ENST00000634844.1:c.3167G>C	ENSP00000489398.1:p.Cys1056Ser
NM_000053.3:c.3311G>C	NP_000044.2:p.Cys1104Ser
NM_001005918.2:c.2690G>C	NP_001005918.1:p.Cys897Ser
NM_001243182.1:c.2978G>C	NP_001230111.1:p.Cys993Ser
XM_005266423.2:c.3215G>C	XP_005266480.1:p.Cys1072Ser
XM_005266424.3:c.3215G>C	XP_005266481.1:p.Cys1072Ser
XM_005266427.2:c.3077G>C	XP_005266484.1:p.Cys1026Ser
XM_005266428.1:c.3059G>C	XP_005266485.1:p.Cys1020Ser
XM_005266430.3:c.3311G>C	XP_005266487.1:p.Cys1104Ser
XM_005266431.2:c.3275G>C	XP_005266488.1:p.Cys1092Ser
XM_005266432.2:c.2825G>C	XP_005266489.1:p.Cys942Ser
XM_006719837.2:c.3215G>C	XP_006719900.1:p.Cys1072Ser
XM_006719838.1:c.1127G>C	XP_006719901.1:p.Cys376Ser
XM_006719839.1:c.944G>C	XP_006719902.1:p.Cys315Ser
XM_011535117.1:c.3215G>C	XP_011533419.1:p.Cys1072Ser
XM_011535118.1:c.3176G>C	XP_011533420.1:p.Cys1059Ser
XM_011535119.1:c.3128G>C	XP_011533421.1:p.Cys1043Ser
XM_011535120.1:c.2897G>C	XP_011533422.1:p.Cys966Ser
XM_011535121.1:c.2798G>C	XP_011533423.1:p.Cys933Ser
XM_011535122.1:c.1979G>C	XP_011533424.1:p.Cys660Ser
XR_941601.1:n.3530G>C
XR_941602.1:n.3530G>C
XR_941603.1:n.3530G>C
XR_941604.1:n.3530G>C
NM_001330578.1:c.3077G>C	NP_001317507.1:p.Cys1026Ser
NM_001330579.1:c.3059G>C	NP_001317508.1:p.Cys1020Ser
XM_005266424.4:c.3215G>C	XP_005266481.1:p.Cys1072Ser
XM_005266430.4:c.3311G>C	XP_005266487.1:p.Cys1104Ser
XM_005266431.4:c.3275G>C	XP_005266488.1:p.Cys1092Ser
XM_006719837.3:c.3215G>C	XP_006719900.1:p.Cys1072Ser
XM_011535117.3:c.3215G>C	XP_011533419.1:p.Cys1072Ser
XM_017020627.1:c.3215G>C	XP_016876116.1:p.Cys1072Ser
NM_000053.4:c.3311G>C MANE Select	NP_000044.2:p.Cys1104Ser
NM_001005918.3:c.2690G>C	NP_001005918.1:p.Cys897Ser
NM_001330579.2:c.3059G>C	NP_001317508.1:p.Cys1020Ser
NM_001243182.2:c.2978G>C	NP_001230111.1:p.Cys993Ser
NM_001330578.2:c.3077G>C	NP_001317507.1:p.Cys1026Ser