Canonical Allele Identifier: CA388026500

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515303T>C (hg19) ; chr13:g.51941167T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941167T>C , CM000675.2:g.51941167T>C	GRCh38
NC_000013.10:g.52515303T>C , CM000675.1:g.52515303T>C	GRCh37
NC_000013.9:g.51413304T>C	NCBI36
NG_008806.1:g.75328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1120A>G	ENSP00000489512.2:n.*1120A>G
ENST00000673864.2:c.*2214A>G	ENSP00000501045.2:n.*2214A>G
ENST00000674147.2:c.2849A>G	ENSP00000500964.2:p.Asn950Ser
ENST00000242839.10:c.3470A>G MANE Select	ENSP00000242839.5:p.Asn1157Ser
ENST00000344297.9:c.2849A>G	ENSP00000342559.5:p.Asn950Ser
ENST00000400366.6:c.3137A>G	ENSP00000383217.3:p.Asn1046Ser
ENST00000448424.7:c.3218A>G	ENSP00000416738.3:p.Asn1073Ser
ENST00000673772.1:c.3236A>G	ENSP00000501168.1:p.Asn1079Ser
ENST00000673867.1:n.3609A>G
ENST00000674126.1:n.3833A>G
ENST00000674147.1:c.2405A>G	ENSP00000500964.1:p.Asn802Ser
ENST00000242839.8:c.3470A>G	ENSP00000242839.4:p.Asn1157Ser
ENST00000344297.8:c.2849A>G	ENSP00000342559.5:p.Asn950Ser
ENST00000400366.5:c.3137A>G	ENSP00000383217.3:p.Asn1046Ser
ENST00000400370.8:c.2180A>G	ENSP00000383221.3:p.Asn727Ser
ENST00000418097.7:c.3275A>G	ENSP00000393343.2:p.Asn1092Ser
ENST00000448424.6:c.3236A>G	ENSP00000416738.2:p.Asn1079Ser
ENST00000634296.1:c.1248A>G
ENST00000634308.1:c.*571A>G	ENSP00000489234.1:n.*571A>G
ENST00000634620.1:n.4214A>G
ENST00000634810.1:n.2815A>G
ENST00000634844.1:c.3326A>G	ENSP00000489398.1:p.Asn1109Ser
NM_000053.3:c.3470A>G	NP_000044.2:p.Asn1157Ser
NM_001005918.2:c.2849A>G	NP_001005918.1:p.Asn950Ser
NM_001243182.1:c.3137A>G	NP_001230111.1:p.Asn1046Ser
XM_005266423.2:c.3374A>G	XP_005266480.1:p.Asn1125Ser
XM_005266424.3:c.3374A>G	XP_005266481.1:p.Asn1125Ser
XM_005266427.2:c.3236A>G	XP_005266484.1:p.Asn1079Ser
XM_005266428.1:c.3218A>G	XP_005266485.1:p.Asn1073Ser
XM_005266430.3:c.3470A>G	XP_005266487.1:p.Asn1157Ser
XM_005266431.2:c.3434A>G	XP_005266488.1:p.Asn1145Ser
XM_005266432.2:c.2984A>G	XP_005266489.1:p.Asn995Ser
XM_006719837.2:c.3374A>G	XP_006719900.1:p.Asn1125Ser
XM_006719838.1:c.1286A>G	XP_006719901.1:p.Asn429Ser
XM_006719839.1:c.1103A>G	XP_006719902.1:p.Asn368Ser
XM_011535117.1:c.3374A>G	XP_011533419.1:p.Asn1125Ser
XM_011535118.1:c.3335A>G	XP_011533420.1:p.Asn1112Ser
XM_011535119.1:c.3287A>G	XP_011533421.1:p.Asn1096Ser
XM_011535120.1:c.3056A>G	XP_011533422.1:p.Asn1019Ser
XM_011535121.1:c.2957A>G	XP_011533423.1:p.Asn986Ser
XM_011535122.1:c.2138A>G	XP_011533424.1:p.Asn713Ser
XR_941601.1:n.3689A>G
XR_941602.1:n.3689A>G
XR_941603.1:n.3689A>G
XR_941604.1:n.3689A>G
NM_001330578.1:c.3236A>G	NP_001317507.1:p.Asn1079Ser
NM_001330579.1:c.3218A>G	NP_001317508.1:p.Asn1073Ser
XM_005266424.4:c.3374A>G	XP_005266481.1:p.Asn1125Ser
XM_005266430.4:c.3470A>G	XP_005266487.1:p.Asn1157Ser
XM_005266431.4:c.3434A>G	XP_005266488.1:p.Asn1145Ser
XM_006719837.3:c.3374A>G	XP_006719900.1:p.Asn1125Ser
XM_011535117.3:c.3374A>G	XP_011533419.1:p.Asn1125Ser
XM_017020627.1:c.3374A>G	XP_016876116.1:p.Asn1125Ser
NM_000053.4:c.3470A>G MANE Select	NP_000044.2:p.Asn1157Ser
NM_001005918.3:c.2849A>G	NP_001005918.1:p.Asn950Ser
NM_001330579.2:c.3218A>G	NP_001317508.1:p.Asn1073Ser
NM_001243182.2:c.3137A>G	NP_001230111.1:p.Asn1046Ser
NM_001330578.2:c.3236A>G	NP_001317507.1:p.Asn1079Ser