Canonical Allele Identifier: CA483894465

Gene: ATP7B

Linked Data

• COSMIC: COSM3885415
• MyVariant Identifiers: chr13:g.52516637G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942501G>A , CM000675.2:g.51942501G>A	GRCh38
NC_000013.10:g.52516637G>A , CM000675.1:g.52516637G>A	GRCh37
NC_000013.9:g.51414638G>A	NCBI36
NG_008806.1:g.73994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*947C>T	ENSP00000489512.2:n.*947C>T
ENST00000673864.2:c.*2041C>T	ENSP00000501045.2:n.*2041C>T
ENST00000674147.2:c.2676C>T	ENSP00000500964.2:p.Gly892=
ENST00000242839.10:c.3297C>T MANE Select	ENSP00000242839.5:p.Gly1099=
ENST00000344297.9:c.2676C>T	ENSP00000342559.5:p.Gly892=
ENST00000400366.6:c.2964C>T	ENSP00000383217.3:p.Gly988=
ENST00000448424.7:c.3045C>T	ENSP00000416738.3:p.Gly1015=
ENST00000673772.1:c.3063C>T	ENSP00000501168.1:p.Gly1021=
ENST00000673867.1:n.3436C>T
ENST00000674126.1:n.3660C>T
ENST00000674147.1:c.2232C>T	ENSP00000500964.1:p.Gly744=
ENST00000242839.8:c.3297C>T	ENSP00000242839.4:p.Gly1099=
ENST00000344297.8:c.2676C>T	ENSP00000342559.5:p.Gly892=
ENST00000400366.5:c.2964C>T	ENSP00000383217.3:p.Gly988=
ENST00000400370.8:c.2007C>T	ENSP00000383221.3:p.Gly669=
ENST00000418097.7:c.3102C>T	ENSP00000393343.2:p.Gly1034=
ENST00000448424.6:c.3063C>T	ENSP00000416738.2:p.Gly1021=
ENST00000634296.1:c.1075C>T
ENST00000634308.1:c.*398C>T	ENSP00000489234.1:n.*398C>T
ENST00000634620.1:n.4041C>T
ENST00000634810.1:n.2642C>T
ENST00000634844.1:c.3153C>T	ENSP00000489398.1:p.Gly1051=
NM_000053.3:c.3297C>T	NP_000044.2:p.Gly1099=
NM_001005918.2:c.2676C>T	NP_001005918.1:p.Gly892=
NM_001243182.1:c.2964C>T	NP_001230111.1:p.Gly988=
XM_005266423.2:c.3201C>T	XP_005266480.1:p.Gly1067=
XM_005266424.3:c.3201C>T	XP_005266481.1:p.Gly1067=
XM_005266427.2:c.3063C>T	XP_005266484.1:p.Gly1021=
XM_005266428.1:c.3045C>T	XP_005266485.1:p.Gly1015=
XM_005266430.3:c.3297C>T	XP_005266487.1:p.Gly1099=
XM_005266431.2:c.3261C>T	XP_005266488.1:p.Gly1087=
XM_005266432.2:c.2811C>T	XP_005266489.1:p.Gly937=
XM_006719837.2:c.3201C>T	XP_006719900.1:p.Gly1067=
XM_006719838.1:c.1113C>T	XP_006719901.1:p.Gly371=
XM_006719839.1:c.930C>T	XP_006719902.1:p.Gly310=
XM_011535117.1:c.3201C>T	XP_011533419.1:p.Gly1067=
XM_011535118.1:c.3162C>T	XP_011533420.1:p.Gly1054=
XM_011535119.1:c.3114C>T	XP_011533421.1:p.Gly1038=
XM_011535120.1:c.2883C>T	XP_011533422.1:p.Gly961=
XM_011535121.1:c.2784C>T	XP_011533423.1:p.Gly928=
XM_011535122.1:c.1965C>T	XP_011533424.1:p.Gly655=
XR_941601.1:n.3516C>T
XR_941602.1:n.3516C>T
XR_941603.1:n.3516C>T
XR_941604.1:n.3516C>T
NM_001330578.1:c.3063C>T	NP_001317507.1:p.Gly1021=
NM_001330579.1:c.3045C>T	NP_001317508.1:p.Gly1015=
XM_005266424.4:c.3201C>T	XP_005266481.1:p.Gly1067=
XM_005266430.4:c.3297C>T	XP_005266487.1:p.Gly1099=
XM_005266431.4:c.3261C>T	XP_005266488.1:p.Gly1087=
XM_006719837.3:c.3201C>T	XP_006719900.1:p.Gly1067=
XM_011535117.3:c.3201C>T	XP_011533419.1:p.Gly1067=
XM_017020627.1:c.3201C>T	XP_016876116.1:p.Gly1067=
NM_000053.4:c.3297C>T MANE Select	NP_000044.2:p.Gly1099=
NM_001005918.3:c.2676C>T	NP_001005918.1:p.Gly892=
NM_001330579.2:c.3045C>T	NP_001317508.1:p.Gly1015=
NM_001243182.2:c.2964C>T	NP_001230111.1:p.Gly988=
NM_001330578.2:c.3063C>T	NP_001317507.1:p.Gly1021=