Canonical Allele Identifier: CA388026234

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941126-C-G
• MyVariant Identifiers: chr13:g.52515262C>G (hg19) ; chr13:g.51941126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941126C>G , CM000675.2:g.51941126C>G	GRCh38
NC_000013.10:g.52515262C>G , CM000675.1:g.52515262C>G	GRCh37
NC_000013.9:g.51413263C>G	NCBI36
NG_008806.1:g.75369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1161G>C	ENSP00000489512.2:n.*1161G>C
ENST00000673864.2:c.*2255G>C	ENSP00000501045.2:n.*2255G>C
ENST00000674147.2:c.2890G>C	ENSP00000500964.2:p.Asp964His
ENST00000242839.10:c.3511G>C MANE Select	ENSP00000242839.5:p.Asp1171His
ENST00000344297.9:c.2890G>C	ENSP00000342559.5:p.Asp964His
ENST00000400366.6:c.3178G>C	ENSP00000383217.3:p.Asp1060His
ENST00000448424.7:c.3259G>C	ENSP00000416738.3:p.Asp1087His
ENST00000673772.1:c.3277G>C	ENSP00000501168.1:p.Asp1093His
ENST00000673867.1:n.3650G>C
ENST00000674126.1:n.3874G>C
ENST00000674147.1:c.2446G>C	ENSP00000500964.1:p.Asp816His
ENST00000242839.8:c.3511G>C	ENSP00000242839.4:p.Asp1171His
ENST00000344297.8:c.2890G>C	ENSP00000342559.5:p.Asp964His
ENST00000400366.5:c.3178G>C	ENSP00000383217.3:p.Asp1060His
ENST00000400370.8:c.2221G>C	ENSP00000383221.3:p.Asp741His
ENST00000418097.7:c.3316G>C	ENSP00000393343.2:p.Asp1106His
ENST00000448424.6:c.3277G>C	ENSP00000416738.2:p.Asp1093His
ENST00000634296.1:c.1289G>C
ENST00000634308.1:c.*612G>C	ENSP00000489234.1:n.*612G>C
ENST00000634620.1:n.4255G>C
ENST00000634810.1:n.2856G>C
ENST00000634844.1:c.3367G>C	ENSP00000489398.1:p.Asp1123His
NM_000053.3:c.3511G>C	NP_000044.2:p.Asp1171His
NM_001005918.2:c.2890G>C	NP_001005918.1:p.Asp964His
NM_001243182.1:c.3178G>C	NP_001230111.1:p.Asp1060His
XM_005266423.2:c.3415G>C	XP_005266480.1:p.Asp1139His
XM_005266424.3:c.3415G>C	XP_005266481.1:p.Asp1139His
XM_005266427.2:c.3277G>C	XP_005266484.1:p.Asp1093His
XM_005266428.1:c.3259G>C	XP_005266485.1:p.Asp1087His
XM_005266430.3:c.3511G>C	XP_005266487.1:p.Asp1171His
XM_005266431.2:c.3475G>C	XP_005266488.1:p.Asp1159His
XM_005266432.2:c.3025G>C	XP_005266489.1:p.Asp1009His
XM_006719837.2:c.3415G>C	XP_006719900.1:p.Asp1139His
XM_006719838.1:c.1327G>C	XP_006719901.1:p.Asp443His
XM_006719839.1:c.1144G>C	XP_006719902.1:p.Asp382His
XM_011535117.1:c.3415G>C	XP_011533419.1:p.Asp1139His
XM_011535118.1:c.3376G>C	XP_011533420.1:p.Asp1126His
XM_011535119.1:c.3328G>C	XP_011533421.1:p.Asp1110His
XM_011535120.1:c.3097G>C	XP_011533422.1:p.Asp1033His
XM_011535121.1:c.2998G>C	XP_011533423.1:p.Asp1000His
XM_011535122.1:c.2179G>C	XP_011533424.1:p.Asp727His
XR_941601.1:n.3730G>C
XR_941602.1:n.3730G>C
XR_941603.1:n.3730G>C
XR_941604.1:n.3730G>C
NM_001330578.1:c.3277G>C	NP_001317507.1:p.Asp1093His
NM_001330579.1:c.3259G>C	NP_001317508.1:p.Asp1087His
XM_005266424.4:c.3415G>C	XP_005266481.1:p.Asp1139His
XM_005266430.4:c.3511G>C	XP_005266487.1:p.Asp1171His
XM_005266431.4:c.3475G>C	XP_005266488.1:p.Asp1159His
XM_006719837.3:c.3415G>C	XP_006719900.1:p.Asp1139His
XM_011535117.3:c.3415G>C	XP_011533419.1:p.Asp1139His
XM_017020627.1:c.3415G>C	XP_016876116.1:p.Asp1139His
NM_000053.4:c.3511G>C MANE Select	NP_000044.2:p.Asp1171His
NM_001005918.3:c.2890G>C	NP_001005918.1:p.Asp964His
NM_001330579.2:c.3259G>C	NP_001317508.1:p.Asp1087His
NM_001243182.2:c.3178G>C	NP_001230111.1:p.Asp1060His
NM_001330578.2:c.3277G>C	NP_001317507.1:p.Asp1093His