Canonical Allele Identifier: CA145687

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 35724
• ClinVar RCV Id: RCV000029373 ; RCV000078052 ; RCV000755468 ; RCV002453269
• dbSNP Id: rs7334118
• ExAC: 13:52513266 T / C
• gnomAD v2: 13-52513266-T-C
• gnomAD v3: 13-51939130-T-C
• gnomAD v4: 13-51939130-T-C
• MyVariant Identifiers: chr13:g.52513266T>C (hg19) ; chr13:g.51939130T>C (hg38)
• PubMed: PMID:10544227 ; PMID:18483695 ; PMID:21610751 ; PMID:21682854

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939130T>C , CM000675.2:g.51939130T>C	GRCh38
NC_000013.10:g.52513266T>C , CM000675.1:g.52513266T>C	GRCh37
NC_000013.9:g.51411267T>C	NCBI36
NG_008806.1:g.77365A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1270A>G	ENSP00000489512.2:n.*1270A>G
ENST00000673864.2:c.*2364A>G	ENSP00000501045.2:n.*2364A>G
ENST00000674147.2:c.2999A>G	ENSP00000500964.2:p.His1000Arg
ENST00000242839.10:c.3620A>G MANE Select	ENSP00000242839.5:p.His1207Arg
ENST00000344297.9:c.2999A>G	ENSP00000342559.5:p.His1000Arg
ENST00000400366.6:c.3287A>G	ENSP00000383217.3:p.His1096Arg
ENST00000448424.7:c.3368A>G	ENSP00000416738.3:p.His1123Arg
ENST00000673696.1:n.861A>G
ENST00000673772.1:c.3386A>G	ENSP00000501168.1:p.His1129Arg
ENST00000673867.1:n.3759A>G
ENST00000673923.1:n.486A>G
ENST00000674147.1:c.2555A>G	ENSP00000500964.1:p.His852Arg
ENST00000242839.8:c.3620A>G	ENSP00000242839.4:p.His1207Arg
ENST00000344297.8:c.2999A>G	ENSP00000342559.5:p.His1000Arg
ENST00000400366.5:c.3287A>G	ENSP00000383217.3:p.His1096Arg
ENST00000400370.8:c.2330A>G	ENSP00000383221.3:p.His777Arg
ENST00000418097.7:c.3425A>G	ENSP00000393343.2:p.His1142Arg
ENST00000448424.6:c.3386A>G	ENSP00000416738.2:p.His1129Arg
ENST00000634296.1:c.1398A>G
ENST00000634308.1:c.*721A>G	ENSP00000489234.1:n.*721A>G
ENST00000634620.1:n.4364A>G
ENST00000634810.1:n.2965A>G
ENST00000634844.1:c.3476A>G	ENSP00000489398.1:p.His1159Arg
NM_000053.3:c.3620A>G	NP_000044.2:p.His1207Arg
NM_001005918.2:c.2999A>G	NP_001005918.1:p.His1000Arg
NM_001243182.1:c.3287A>G	NP_001230111.1:p.His1096Arg
XM_005266423.2:c.3524A>G	XP_005266480.1:p.His1175Arg
XM_005266424.3:c.3524A>G	XP_005266481.1:p.His1175Arg
XM_005266427.2:c.3386A>G	XP_005266484.1:p.His1129Arg
XM_005266428.1:c.3368A>G	XP_005266485.1:p.His1123Arg
XM_005266430.3:c.3620A>G	XP_005266487.1:p.His1207Arg
XM_005266431.2:c.3584A>G	XP_005266488.1:p.His1195Arg
XM_005266432.2:c.3134A>G	XP_005266489.1:p.His1045Arg
XM_006719837.2:c.3524A>G	XP_006719900.1:p.His1175Arg
XM_006719838.1:c.1436A>G	XP_006719901.1:p.His479Arg
XM_006719839.1:c.1253A>G	XP_006719902.1:p.His418Arg
XM_011535117.1:c.3524A>G	XP_011533419.1:p.His1175Arg
XM_011535118.1:c.3485A>G	XP_011533420.1:p.His1162Arg
XM_011535119.1:c.3437A>G	XP_011533421.1:p.His1146Arg
XM_011535120.1:c.3206A>G	XP_011533422.1:p.His1069Arg
XM_011535121.1:c.3107A>G	XP_011533423.1:p.His1036Arg
XM_011535122.1:c.2288A>G	XP_011533424.1:p.His763Arg
XR_941601.1:n.3839A>G
XR_941602.1:n.3839A>G
XR_941603.1:n.3839A>G
XR_941604.1:n.3839A>G
NM_001330578.1:c.3386A>G	NP_001317507.1:p.His1129Arg
NM_001330579.1:c.3368A>G	NP_001317508.1:p.His1123Arg
XM_005266424.4:c.3524A>G	XP_005266481.1:p.His1175Arg
XM_005266430.4:c.3620A>G	XP_005266487.1:p.His1207Arg
XM_005266431.4:c.3584A>G	XP_005266488.1:p.His1195Arg
XM_006719837.3:c.3524A>G	XP_006719900.1:p.His1175Arg
XM_011535117.3:c.3524A>G	XP_011533419.1:p.His1175Arg
XM_017020627.1:c.3524A>G	XP_016876116.1:p.His1175Arg
NM_000053.4:c.3620A>G MANE Select	NP_000044.2:p.His1207Arg
NM_001005918.3:c.2999A>G	NP_001005918.1:p.His1000Arg
NM_001330579.2:c.3368A>G	NP_001317508.1:p.His1123Arg
NM_001243182.2:c.3287A>G	NP_001230111.1:p.His1096Arg
NM_001330578.2:c.3386A>G	NP_001317507.1:p.His1129Arg