Canonical Allele Identifier: CA483894633

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518269C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944133C>A , CM000675.2:g.51944133C>A	GRCh38
NC_000013.10:g.52518269C>A , CM000675.1:g.52518269C>A	GRCh37
NC_000013.9:g.51416270C>A	NCBI36
NG_008806.1:g.72362G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1579G>T	ENSP00000489512.2:n.*894-1579G>T
ENST00000673864.2:c.*1963G>T	ENSP00000501045.2:n.*1963G>T
ENST00000674147.2:c.2598G>T	ENSP00000500964.2:p.Val866=
ENST00000242839.10:c.3219G>T MANE Select	ENSP00000242839.5:p.Val1073=
ENST00000344297.9:c.2598G>T	ENSP00000342559.5:p.Val866=
ENST00000400366.6:c.2886G>T	ENSP00000383217.3:p.Val962=
ENST00000448424.7:c.2967G>T	ENSP00000416738.3:p.Val989=
ENST00000673772.1:c.2985G>T	ENSP00000501168.1:p.Val995=
ENST00000673867.1:n.3358G>T
ENST00000674126.1:n.3582G>T
ENST00000674147.1:c.2154G>T	ENSP00000500964.1:p.Val718=
ENST00000242839.8:c.3219G>T	ENSP00000242839.4:p.Val1073=
ENST00000344297.8:c.2598G>T	ENSP00000342559.5:p.Val866=
ENST00000400366.5:c.2886G>T	ENSP00000383217.3:p.Val962=
ENST00000400370.8:c.1929G>T	ENSP00000383221.3:p.Val643=
ENST00000418097.7:c.3024G>T	ENSP00000393343.2:p.Val1008=
ENST00000448424.6:c.2985G>T	ENSP00000416738.2:p.Val995=
ENST00000466629.1:n.439G>T
ENST00000634296.1:c.1022-1579G>T
ENST00000634308.1:c.*320G>T	ENSP00000489234.1:n.*320G>T
ENST00000634620.1:n.3963G>T
ENST00000634810.1:n.2564G>T
ENST00000634844.1:c.3075G>T	ENSP00000489398.1:p.Val1025=
NM_000053.3:c.3219G>T	NP_000044.2:p.Val1073=
NM_001005918.2:c.2598G>T	NP_001005918.1:p.Val866=
NM_001243182.1:c.2886G>T	NP_001230111.1:p.Val962=
XM_005266423.2:c.3123G>T	XP_005266480.1:p.Val1041=
XM_005266424.3:c.3123G>T	XP_005266481.1:p.Val1041=
XM_005266427.2:c.2985G>T	XP_005266484.1:p.Val995=
XM_005266428.1:c.2967G>T	XP_005266485.1:p.Val989=
XM_005266430.3:c.3219G>T	XP_005266487.1:p.Val1073=
XM_005266431.2:c.3183G>T	XP_005266488.1:p.Val1061=
XM_005266432.2:c.2733G>T	XP_005266489.1:p.Val911=
XM_006719837.2:c.3123G>T	XP_006719900.1:p.Val1041=
XM_006719838.1:c.1035G>T	XP_006719901.1:p.Val345=
XM_006719839.1:c.877-1579G>T	XP_006719902.1:n.877-1579G>T
XM_011535117.1:c.3123G>T	XP_011533419.1:p.Val1041=
XM_011535118.1:c.3084G>T	XP_011533420.1:p.Val1028=
XM_011535119.1:c.3061-1579G>T	XP_011533421.1:n.3061-1579G>T
XM_011535120.1:c.2805G>T	XP_011533422.1:p.Val935=
XM_011535121.1:c.2731-1579G>T	XP_011533423.1:n.2731-1579G>T
XM_011535122.1:c.1887G>T	XP_011533424.1:p.Val629=
XR_941601.1:n.3438G>T
XR_941602.1:n.3438G>T
XR_941603.1:n.3438G>T
XR_941604.1:n.3438G>T
NM_001330578.1:c.2985G>T	NP_001317507.1:p.Val995=
NM_001330579.1:c.2967G>T	NP_001317508.1:p.Val989=
XM_005266424.4:c.3123G>T	XP_005266481.1:p.Val1041=
XM_005266430.4:c.3219G>T	XP_005266487.1:p.Val1073=
XM_005266431.4:c.3183G>T	XP_005266488.1:p.Val1061=
XM_006719837.3:c.3123G>T	XP_006719900.1:p.Val1041=
XM_011535117.3:c.3123G>T	XP_011533419.1:p.Val1041=
XM_017020627.1:c.3123G>T	XP_016876116.1:p.Val1041=
NM_000053.4:c.3219G>T MANE Select	NP_000044.2:p.Val1073=
NM_001005918.3:c.2598G>T	NP_001005918.1:p.Val866=
NM_001330579.2:c.2967G>T	NP_001317508.1:p.Val989=
NM_001243182.2:c.2886G>T	NP_001230111.1:p.Val962=
NM_001330578.2:c.2985G>T	NP_001317507.1:p.Val995=