Canonical Allele Identifier: CA388032088

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520484G>A (hg19) ; chr13:g.51946348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946348G>A , CM000675.2:g.51946348G>A	GRCh38
NC_000013.10:g.52520484G>A , CM000675.1:g.52520484G>A	GRCh37
NC_000013.9:g.51418485G>A	NCBI36
NG_008806.1:g.70147C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*829C>T	ENSP00000489512.2:n.*829C>T
ENST00000673864.2:c.*1740C>T	ENSP00000501045.2:n.*1740C>T
ENST00000674147.2:c.2375C>T	ENSP00000500964.2:p.Thr792Ile
ENST00000242839.10:c.2996C>T MANE Select	ENSP00000242839.5:p.Thr999Ile
ENST00000344297.9:c.2375C>T	ENSP00000342559.5:p.Thr792Ile
ENST00000400366.6:c.2663C>T	ENSP00000383217.3:p.Thr888Ile
ENST00000448424.7:c.2744C>T	ENSP00000416738.3:p.Thr915Ile
ENST00000673772.1:c.2762C>T	ENSP00000501168.1:p.Thr921Ile
ENST00000673867.1:n.1143C>T
ENST00000674126.1:n.3359C>T
ENST00000674147.1:c.1931C>T	ENSP00000500964.1:p.Thr644Ile
ENST00000242839.8:c.2996C>T	ENSP00000242839.4:p.Thr999Ile
ENST00000344297.8:c.2375C>T	ENSP00000342559.5:p.Thr792Ile
ENST00000400366.5:c.2663C>T	ENSP00000383217.3:p.Thr888Ile
ENST00000400370.8:c.1706C>T	ENSP00000383221.3:p.Thr569Ile
ENST00000418097.7:c.2866-2057C>T	ENSP00000393343.2:n.2866-2057C>T
ENST00000448424.6:c.2762C>T	ENSP00000416738.2:p.Thr921Ile
ENST00000466629.1:n.216C>T
ENST00000634296.1:c.957C>T
ENST00000634308.1:c.*97C>T	ENSP00000489234.1:n.*97C>T
ENST00000634620.1:n.3740C>T
ENST00000634810.1:n.2341C>T
ENST00000634844.1:c.2852C>T	ENSP00000489398.1:p.Thr951Ile
ENST00000635406.1:n.342C>T
NM_000053.3:c.2996C>T	NP_000044.2:p.Thr999Ile
NM_001005918.2:c.2375C>T	NP_001005918.1:p.Thr792Ile
NM_001243182.1:c.2663C>T	NP_001230111.1:p.Thr888Ile
XM_005266423.2:c.2900C>T	XP_005266480.1:p.Thr967Ile
XM_005266424.3:c.2900C>T	XP_005266481.1:p.Thr967Ile
XM_005266427.2:c.2762C>T	XP_005266484.1:p.Thr921Ile
XM_005266428.1:c.2744C>T	XP_005266485.1:p.Thr915Ile
XM_005266430.3:c.2996C>T	XP_005266487.1:p.Thr999Ile
XM_005266431.2:c.2960C>T	XP_005266488.1:p.Thr987Ile
XM_005266432.2:c.2510C>T	XP_005266489.1:p.Thr837Ile
XM_006719837.2:c.2900C>T	XP_006719900.1:p.Thr967Ile
XM_006719838.1:c.812C>T	XP_006719901.1:p.Thr271Ile
XM_006719839.1:c.812C>T	XP_006719902.1:p.Thr271Ile
XM_011535117.1:c.2900C>T	XP_011533419.1:p.Thr967Ile
XM_011535118.1:c.2861C>T	XP_011533420.1:p.Thr954Ile
XM_011535119.1:c.2996C>T	XP_011533421.1:p.Thr999Ile
XM_011535120.1:c.2582C>T	XP_011533422.1:p.Thr861Ile
XM_011535121.1:c.2730+3659C>T	XP_011533423.1:n.2730+3659C>T
XM_011535122.1:c.1664C>T	XP_011533424.1:p.Thr555Ile
XR_941601.1:n.3215C>T
XR_941602.1:n.3215C>T
XR_941603.1:n.3215C>T
XR_941604.1:n.3215C>T
NM_001330578.1:c.2762C>T	NP_001317507.1:p.Thr921Ile
NM_001330579.1:c.2744C>T	NP_001317508.1:p.Thr915Ile
XM_005266424.4:c.2900C>T	XP_005266481.1:p.Thr967Ile
XM_005266430.4:c.2996C>T	XP_005266487.1:p.Thr999Ile
XM_005266431.4:c.2960C>T	XP_005266488.1:p.Thr987Ile
XM_006719837.3:c.2900C>T	XP_006719900.1:p.Thr967Ile
XM_011535117.3:c.2900C>T	XP_011533419.1:p.Thr967Ile
XM_017020627.1:c.2900C>T	XP_016876116.1:p.Thr967Ile
NM_000053.4:c.2996C>T MANE Select	NP_000044.2:p.Thr999Ile
NM_001005918.3:c.2375C>T	NP_001005918.1:p.Thr792Ile
NM_001330579.2:c.2744C>T	NP_001317508.1:p.Thr915Ile
NM_001243182.2:c.2663C>T	NP_001230111.1:p.Thr888Ile
NM_001330578.2:c.2762C>T	NP_001317507.1:p.Thr921Ile