Canonical Allele Identifier: CA388021478

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937502-C-G
• MyVariant Identifiers: chr13:g.52511638C>G (hg19) ; chr13:g.51937502C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937502C>G , CM000675.2:g.51937502C>G	GRCh38
NC_000013.10:g.52511638C>G , CM000675.1:g.52511638C>G	GRCh37
NC_000013.9:g.51409639C>G	NCBI36
NG_008806.1:g.78993G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1527G>C	ENSP00000489512.2:n.*1527G>C
ENST00000673864.2:c.*2621G>C	ENSP00000501045.2:n.*2621G>C
ENST00000674147.2:c.3256G>C	ENSP00000500964.2:p.Glu1086Gln
ENST00000242839.10:c.3877G>C MANE Select	ENSP00000242839.5:p.Glu1293Gln
ENST00000344297.9:c.3256G>C	ENSP00000342559.5:p.Glu1086Gln
ENST00000400366.6:c.3544G>C	ENSP00000383217.3:p.Glu1182Gln
ENST00000448424.7:c.3625G>C	ENSP00000416738.3:p.Glu1209Gln
ENST00000673696.1:n.1118G>C
ENST00000673772.1:c.3643G>C	ENSP00000501168.1:p.Glu1215Gln
ENST00000673867.1:n.4016G>C
ENST00000673923.1:n.743G>C
ENST00000674147.1:c.2812G>C	ENSP00000500964.1:p.Glu938Gln
ENST00000242839.8:c.3877G>C	ENSP00000242839.4:p.Glu1293Gln
ENST00000344297.8:c.3256G>C	ENSP00000342559.5:p.Glu1086Gln
ENST00000400366.5:c.3544G>C	ENSP00000383217.3:p.Glu1182Gln
ENST00000400370.8:c.2587G>C	ENSP00000383221.3:p.Glu863Gln
ENST00000418097.7:c.3682G>C	ENSP00000393343.2:p.Glu1228Gln
ENST00000448424.6:c.3643G>C	ENSP00000416738.2:p.Glu1215Gln
ENST00000634296.1:c.1655G>C
ENST00000634308.1:c.*978G>C	ENSP00000489234.1:n.*978G>C
ENST00000634620.1:n.4621G>C
ENST00000634810.1:n.3222G>C
ENST00000634844.1:c.3733G>C	ENSP00000489398.1:p.Glu1245Gln
NM_000053.3:c.3877G>C	NP_000044.2:p.Glu1293Gln
NM_001005918.2:c.3256G>C	NP_001005918.1:p.Glu1086Gln
NM_001243182.1:c.3544G>C	NP_001230111.1:p.Glu1182Gln
XM_005266423.2:c.3781G>C	XP_005266480.1:p.Glu1261Gln
XM_005266424.3:c.3781G>C	XP_005266481.1:p.Glu1261Gln
XM_005266427.2:c.3643G>C	XP_005266484.1:p.Glu1215Gln
XM_005266428.1:c.3625G>C	XP_005266485.1:p.Glu1209Gln
XM_005266430.3:c.3877G>C	XP_005266487.1:p.Glu1293Gln
XM_005266431.2:c.3841G>C	XP_005266488.1:p.Glu1281Gln
XM_005266432.2:c.3391G>C	XP_005266489.1:p.Glu1131Gln
XM_006719837.2:c.3781G>C	XP_006719900.1:p.Glu1261Gln
XM_006719838.1:c.1693G>C	XP_006719901.1:p.Glu565Gln
XM_006719839.1:c.1510G>C	XP_006719902.1:p.Glu504Gln
XM_011535117.1:c.3781G>C	XP_011533419.1:p.Glu1261Gln
XM_011535118.1:c.3742G>C	XP_011533420.1:p.Glu1248Gln
XM_011535119.1:c.3694G>C	XP_011533421.1:p.Glu1232Gln
XM_011535120.1:c.3463G>C	XP_011533422.1:p.Glu1155Gln
XM_011535121.1:c.3364G>C	XP_011533423.1:p.Glu1122Gln
XM_011535122.1:c.2545G>C	XP_011533424.1:p.Glu849Gln
XR_941601.1:n.4096G>C
XR_941602.1:n.4096G>C
XR_941603.1:n.4096G>C
XR_941604.1:n.4096G>C
NM_001330578.1:c.3643G>C	NP_001317507.1:p.Glu1215Gln
NM_001330579.1:c.3625G>C	NP_001317508.1:p.Glu1209Gln
XM_005266424.4:c.3781G>C	XP_005266481.1:p.Glu1261Gln
XM_005266430.4:c.3877G>C	XP_005266487.1:p.Glu1293Gln
XM_005266431.4:c.3841G>C	XP_005266488.1:p.Glu1281Gln
XM_006719837.3:c.3781G>C	XP_006719900.1:p.Glu1261Gln
XM_011535117.3:c.3781G>C	XP_011533419.1:p.Glu1261Gln
XM_017020627.1:c.3781G>C	XP_016876116.1:p.Glu1261Gln
NM_000053.4:c.3877G>C MANE Select	NP_000044.2:p.Glu1293Gln
NM_001005918.3:c.3256G>C	NP_001005918.1:p.Glu1086Gln
NM_001330579.2:c.3625G>C	NP_001317508.1:p.Glu1209Gln
NM_001243182.2:c.3544G>C	NP_001230111.1:p.Glu1182Gln
NM_001330578.2:c.3643G>C	NP_001317507.1:p.Glu1215Gln