Canonical Allele Identifier: CA388032423

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520565A>C (hg19) ; chr13:g.51946429A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946429A>C , CM000675.2:g.51946429A>C	GRCh38
NC_000013.10:g.52520565A>C , CM000675.1:g.52520565A>C	GRCh37
NC_000013.9:g.51418566A>C	NCBI36
NG_008806.1:g.70066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*748T>G	ENSP00000489512.2:n.*748T>G
ENST00000673864.2:c.*1659T>G	ENSP00000501045.2:n.*1659T>G
ENST00000674147.2:c.2294T>G	ENSP00000500964.2:p.Phe765Cys
ENST00000242839.10:c.2915T>G MANE Select	ENSP00000242839.5:p.Phe972Cys
ENST00000344297.9:c.2294T>G	ENSP00000342559.5:p.Phe765Cys
ENST00000400366.6:c.2582T>G	ENSP00000383217.3:p.Phe861Cys
ENST00000448424.7:c.2663T>G	ENSP00000416738.3:p.Phe888Cys
ENST00000673772.1:c.2681T>G	ENSP00000501168.1:p.Phe894Cys
ENST00000673867.1:n.1062T>G
ENST00000674126.1:n.3278T>G
ENST00000674147.1:c.1850T>G	ENSP00000500964.1:p.Phe617Cys
ENST00000242839.8:c.2915T>G	ENSP00000242839.4:p.Phe972Cys
ENST00000344297.8:c.2294T>G	ENSP00000342559.5:p.Phe765Cys
ENST00000400366.5:c.2582T>G	ENSP00000383217.3:p.Phe861Cys
ENST00000400370.8:c.1625T>G	ENSP00000383221.3:p.Phe542Cys
ENST00000418097.7:c.2866-2138T>G	ENSP00000393343.2:n.2866-2138T>G
ENST00000448424.6:c.2681T>G	ENSP00000416738.2:p.Phe894Cys
ENST00000466629.1:n.135T>G
ENST00000634296.1:c.876T>G
ENST00000634308.1:c.*16T>G	ENSP00000489234.1:n.*16T>G
ENST00000634620.1:n.3659T>G
ENST00000634810.1:n.2260T>G
ENST00000634844.1:c.2771T>G	ENSP00000489398.1:p.Phe924Cys
ENST00000635406.1:n.261T>G
NM_000053.3:c.2915T>G	NP_000044.2:p.Phe972Cys
NM_001005918.2:c.2294T>G	NP_001005918.1:p.Phe765Cys
NM_001243182.1:c.2582T>G	NP_001230111.1:p.Phe861Cys
XM_005266423.2:c.2819T>G	XP_005266480.1:p.Phe940Cys
XM_005266424.3:c.2819T>G	XP_005266481.1:p.Phe940Cys
XM_005266427.2:c.2681T>G	XP_005266484.1:p.Phe894Cys
XM_005266428.1:c.2663T>G	XP_005266485.1:p.Phe888Cys
XM_005266430.3:c.2915T>G	XP_005266487.1:p.Phe972Cys
XM_005266431.2:c.2879T>G	XP_005266488.1:p.Phe960Cys
XM_005266432.2:c.2429T>G	XP_005266489.1:p.Phe810Cys
XM_006719837.2:c.2819T>G	XP_006719900.1:p.Phe940Cys
XM_006719838.1:c.731T>G	XP_006719901.1:p.Phe244Cys
XM_006719839.1:c.731T>G	XP_006719902.1:p.Phe244Cys
XM_011535117.1:c.2819T>G	XP_011533419.1:p.Phe940Cys
XM_011535118.1:c.2780T>G	XP_011533420.1:p.Phe927Cys
XM_011535119.1:c.2915T>G	XP_011533421.1:p.Phe972Cys
XM_011535120.1:c.2501T>G	XP_011533422.1:p.Phe834Cys
XM_011535121.1:c.2730+3578T>G	XP_011533423.1:n.2730+3578T>G
XM_011535122.1:c.1583T>G	XP_011533424.1:p.Phe528Cys
XR_941601.1:n.3134T>G
XR_941602.1:n.3134T>G
XR_941603.1:n.3134T>G
XR_941604.1:n.3134T>G
NM_001330578.1:c.2681T>G	NP_001317507.1:p.Phe894Cys
NM_001330579.1:c.2663T>G	NP_001317508.1:p.Phe888Cys
XM_005266424.4:c.2819T>G	XP_005266481.1:p.Phe940Cys
XM_005266430.4:c.2915T>G	XP_005266487.1:p.Phe972Cys
XM_005266431.4:c.2879T>G	XP_005266488.1:p.Phe960Cys
XM_006719837.3:c.2819T>G	XP_006719900.1:p.Phe940Cys
XM_011535117.3:c.2819T>G	XP_011533419.1:p.Phe940Cys
XM_017020627.1:c.2819T>G	XP_016876116.1:p.Phe940Cys
NM_000053.4:c.2915T>G MANE Select	NP_000044.2:p.Phe972Cys
NM_001005918.3:c.2294T>G	NP_001005918.1:p.Phe765Cys
NM_001330579.2:c.2663T>G	NP_001317508.1:p.Phe888Cys
NM_001243182.2:c.2582T>G	NP_001230111.1:p.Phe861Cys
NM_001330578.2:c.2681T>G	NP_001317507.1:p.Phe894Cys