Canonical Allele Identifier: CA483895002

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1124687
• ClinVar RCV Id: RCV001456160
• dbSNP Id: rs2139060842
• MyVariant Identifiers: chr13:g.52520564G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946428G>A , CM000675.2:g.51946428G>A	GRCh38
NC_000013.10:g.52520564G>A , CM000675.1:g.52520564G>A	GRCh37
NC_000013.9:g.51418565G>A	NCBI36
NG_008806.1:g.70067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*749C>T	ENSP00000489512.2:n.*749C>T
ENST00000673864.2:c.*1660C>T	ENSP00000501045.2:n.*1660C>T
ENST00000674147.2:c.2295C>T	ENSP00000500964.2:p.Phe765=
ENST00000242839.10:c.2916C>T MANE Select	ENSP00000242839.5:p.Phe972=
ENST00000344297.9:c.2295C>T	ENSP00000342559.5:p.Phe765=
ENST00000400366.6:c.2583C>T	ENSP00000383217.3:p.Phe861=
ENST00000448424.7:c.2664C>T	ENSP00000416738.3:p.Phe888=
ENST00000673772.1:c.2682C>T	ENSP00000501168.1:p.Phe894=
ENST00000673867.1:n.1063C>T
ENST00000674126.1:n.3279C>T
ENST00000674147.1:c.1851C>T	ENSP00000500964.1:p.Phe617=
ENST00000242839.8:c.2916C>T	ENSP00000242839.4:p.Phe972=
ENST00000344297.8:c.2295C>T	ENSP00000342559.5:p.Phe765=
ENST00000400366.5:c.2583C>T	ENSP00000383217.3:p.Phe861=
ENST00000400370.8:c.1626C>T	ENSP00000383221.3:p.Phe542=
ENST00000418097.7:c.2866-2137C>T	ENSP00000393343.2:n.2866-2137C>T
ENST00000448424.6:c.2682C>T	ENSP00000416738.2:p.Phe894=
ENST00000466629.1:n.136C>T
ENST00000634296.1:c.877C>T
ENST00000634308.1:c.*17C>T	ENSP00000489234.1:n.*17C>T
ENST00000634620.1:n.3660C>T
ENST00000634810.1:n.2261C>T
ENST00000634844.1:c.2772C>T	ENSP00000489398.1:p.Phe924=
ENST00000635406.1:n.262C>T
NM_000053.3:c.2916C>T	NP_000044.2:p.Phe972=
NM_001005918.2:c.2295C>T	NP_001005918.1:p.Phe765=
NM_001243182.1:c.2583C>T	NP_001230111.1:p.Phe861=
XM_005266423.2:c.2820C>T	XP_005266480.1:p.Phe940=
XM_005266424.3:c.2820C>T	XP_005266481.1:p.Phe940=
XM_005266427.2:c.2682C>T	XP_005266484.1:p.Phe894=
XM_005266428.1:c.2664C>T	XP_005266485.1:p.Phe888=
XM_005266430.3:c.2916C>T	XP_005266487.1:p.Phe972=
XM_005266431.2:c.2880C>T	XP_005266488.1:p.Phe960=
XM_005266432.2:c.2430C>T	XP_005266489.1:p.Phe810=
XM_006719837.2:c.2820C>T	XP_006719900.1:p.Phe940=
XM_006719838.1:c.732C>T	XP_006719901.1:p.Phe244=
XM_006719839.1:c.732C>T	XP_006719902.1:p.Phe244=
XM_011535117.1:c.2820C>T	XP_011533419.1:p.Phe940=
XM_011535118.1:c.2781C>T	XP_011533420.1:p.Phe927=
XM_011535119.1:c.2916C>T	XP_011533421.1:p.Phe972=
XM_011535120.1:c.2502C>T	XP_011533422.1:p.Phe834=
XM_011535121.1:c.2730+3579C>T	XP_011533423.1:n.2730+3579C>T
XM_011535122.1:c.1584C>T	XP_011533424.1:p.Phe528=
XR_941601.1:n.3135C>T
XR_941602.1:n.3135C>T
XR_941603.1:n.3135C>T
XR_941604.1:n.3135C>T
NM_001330578.1:c.2682C>T	NP_001317507.1:p.Phe894=
NM_001330579.1:c.2664C>T	NP_001317508.1:p.Phe888=
XM_005266424.4:c.2820C>T	XP_005266481.1:p.Phe940=
XM_005266430.4:c.2916C>T	XP_005266487.1:p.Phe972=
XM_005266431.4:c.2880C>T	XP_005266488.1:p.Phe960=
XM_006719837.3:c.2820C>T	XP_006719900.1:p.Phe940=
XM_011535117.3:c.2820C>T	XP_011533419.1:p.Phe940=
XM_017020627.1:c.2820C>T	XP_016876116.1:p.Phe940=
NM_000053.4:c.2916C>T MANE Select	NP_000044.2:p.Phe972=
NM_001005918.3:c.2295C>T	NP_001005918.1:p.Phe765=
NM_001330579.2:c.2664C>T	NP_001317508.1:p.Phe888=
NM_001243182.2:c.2583C>T	NP_001230111.1:p.Phe861=
NM_001330578.2:c.2682C>T	NP_001317507.1:p.Phe894=