Canonical Allele Identifier: CA483894900

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520480C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946344C>A , CM000675.2:g.51946344C>A	GRCh38
NC_000013.10:g.52520480C>A , CM000675.1:g.52520480C>A	GRCh37
NC_000013.9:g.51418481C>A	NCBI36
NG_008806.1:g.70151G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*833G>T	ENSP00000489512.2:n.*833G>T
ENST00000673864.2:c.*1744G>T	ENSP00000501045.2:n.*1744G>T
ENST00000674147.2:c.2379G>T	ENSP00000500964.2:p.Gly793=
ENST00000242839.10:c.3000G>T MANE Select	ENSP00000242839.5:p.Gly1000=
ENST00000344297.9:c.2379G>T	ENSP00000342559.5:p.Gly793=
ENST00000400366.6:c.2667G>T	ENSP00000383217.3:p.Gly889=
ENST00000448424.7:c.2748G>T	ENSP00000416738.3:p.Gly916=
ENST00000673772.1:c.2766G>T	ENSP00000501168.1:p.Gly922=
ENST00000673867.1:n.1147G>T
ENST00000674126.1:n.3363G>T
ENST00000674147.1:c.1935G>T	ENSP00000500964.1:p.Gly645=
ENST00000242839.8:c.3000G>T	ENSP00000242839.4:p.Gly1000=
ENST00000344297.8:c.2379G>T	ENSP00000342559.5:p.Gly793=
ENST00000400366.5:c.2667G>T	ENSP00000383217.3:p.Gly889=
ENST00000400370.8:c.1710G>T	ENSP00000383221.3:p.Gly570=
ENST00000418097.7:c.2866-2053G>T	ENSP00000393343.2:n.2866-2053G>T
ENST00000448424.6:c.2766G>T	ENSP00000416738.2:p.Gly922=
ENST00000466629.1:n.220G>T
ENST00000634296.1:c.961G>T
ENST00000634308.1:c.*101G>T	ENSP00000489234.1:n.*101G>T
ENST00000634620.1:n.3744G>T
ENST00000634810.1:n.2345G>T
ENST00000634844.1:c.2856G>T	ENSP00000489398.1:p.Gly952=
ENST00000635406.1:n.346G>T
NM_000053.3:c.3000G>T	NP_000044.2:p.Gly1000=
NM_001005918.2:c.2379G>T	NP_001005918.1:p.Gly793=
NM_001243182.1:c.2667G>T	NP_001230111.1:p.Gly889=
XM_005266423.2:c.2904G>T	XP_005266480.1:p.Gly968=
XM_005266424.3:c.2904G>T	XP_005266481.1:p.Gly968=
XM_005266427.2:c.2766G>T	XP_005266484.1:p.Gly922=
XM_005266428.1:c.2748G>T	XP_005266485.1:p.Gly916=
XM_005266430.3:c.3000G>T	XP_005266487.1:p.Gly1000=
XM_005266431.2:c.2964G>T	XP_005266488.1:p.Gly988=
XM_005266432.2:c.2514G>T	XP_005266489.1:p.Gly838=
XM_006719837.2:c.2904G>T	XP_006719900.1:p.Gly968=
XM_006719838.1:c.816G>T	XP_006719901.1:p.Gly272=
XM_006719839.1:c.816G>T	XP_006719902.1:p.Gly272=
XM_011535117.1:c.2904G>T	XP_011533419.1:p.Gly968=
XM_011535118.1:c.2865G>T	XP_011533420.1:p.Gly955=
XM_011535119.1:c.3000G>T	XP_011533421.1:p.Gly1000=
XM_011535120.1:c.2586G>T	XP_011533422.1:p.Gly862=
XM_011535121.1:c.2730+3663G>T	XP_011533423.1:n.2730+3663G>T
XM_011535122.1:c.1668G>T	XP_011533424.1:p.Gly556=
XR_941601.1:n.3219G>T
XR_941602.1:n.3219G>T
XR_941603.1:n.3219G>T
XR_941604.1:n.3219G>T
NM_001330578.1:c.2766G>T	NP_001317507.1:p.Gly922=
NM_001330579.1:c.2748G>T	NP_001317508.1:p.Gly916=
XM_005266424.4:c.2904G>T	XP_005266481.1:p.Gly968=
XM_005266430.4:c.3000G>T	XP_005266487.1:p.Gly1000=
XM_005266431.4:c.2964G>T	XP_005266488.1:p.Gly988=
XM_006719837.3:c.2904G>T	XP_006719900.1:p.Gly968=
XM_011535117.3:c.2904G>T	XP_011533419.1:p.Gly968=
XM_017020627.1:c.2904G>T	XP_016876116.1:p.Gly968=
NM_000053.4:c.3000G>T MANE Select	NP_000044.2:p.Gly1000=
NM_001005918.3:c.2379G>T	NP_001005918.1:p.Gly793=
NM_001330579.2:c.2748G>T	NP_001317508.1:p.Gly916=
NM_001243182.2:c.2667G>T	NP_001230111.1:p.Gly889=
NM_001330578.2:c.2766G>T	NP_001317507.1:p.Gly922=