Canonical Allele Identifier: CA388034282

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52524184C>A (hg19) ; chr13:g.51950048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950048C>A , CM000675.2:g.51950048C>A	GRCh38
NC_000013.10:g.52524184C>A , CM000675.1:g.52524184C>A	GRCh37
NC_000013.9:g.51422185C>A	NCBI36
NG_008806.1:g.66447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*522G>T	ENSP00000489512.2:n.*522G>T
ENST00000673864.2:c.*1433G>T	ENSP00000501045.2:n.*1433G>T
ENST00000674147.2:c.2203G>T	ENSP00000500964.2:p.Ala735Ser
ENST00000242839.10:c.2689G>T MANE Select	ENSP00000242839.5:p.Ala897Ser
ENST00000344297.9:c.2203G>T	ENSP00000342559.5:p.Ala735Ser
ENST00000400366.6:c.2356G>T	ENSP00000383217.3:p.Ala786Ser
ENST00000448424.7:c.2437G>T	ENSP00000416738.3:p.Ala813Ser
ENST00000673772.1:c.2455G>T	ENSP00000501168.1:p.Ala819Ser
ENST00000674147.1:c.1759G>T	ENSP00000500964.1:p.Ala587Ser
ENST00000242839.8:c.2689G>T	ENSP00000242839.4:p.Ala897Ser
ENST00000344297.8:c.2203G>T	ENSP00000342559.5:p.Ala735Ser
ENST00000400366.5:c.2356G>T	ENSP00000383217.3:p.Ala786Ser
ENST00000400370.8:c.1399G>T	ENSP00000383221.3:p.Ala467Ser
ENST00000418097.7:c.2689G>T	ENSP00000393343.2:p.Ala897Ser
ENST00000448424.6:c.2455G>T	ENSP00000416738.2:p.Ala819Ser
ENST00000634296.1:c.650G>T
ENST00000634308.1:c.2455G>T	ENSP00000489234.1:p.Ala819Ser
ENST00000634620.1:n.3487G>T
ENST00000634810.1:n.2034G>T
ENST00000634844.1:c.2545G>T	ENSP00000489398.1:p.Ala849Ser
ENST00000635406.1:n.212-3570G>T
NM_000053.3:c.2689G>T	NP_000044.2:p.Ala897Ser
NM_001005918.2:c.2203G>T	NP_001005918.1:p.Ala735Ser
NM_001243182.1:c.2356G>T	NP_001230111.1:p.Ala786Ser
XM_005266423.2:c.2593G>T	XP_005266480.1:p.Ala865Ser
XM_005266424.3:c.2593G>T	XP_005266481.1:p.Ala865Ser
XM_005266427.2:c.2455G>T	XP_005266484.1:p.Ala819Ser
XM_005266428.1:c.2437G>T	XP_005266485.1:p.Ala813Ser
XM_005266430.3:c.2689G>T	XP_005266487.1:p.Ala897Ser
XM_005266431.2:c.2653G>T	XP_005266488.1:p.Ala885Ser
XM_005266432.2:c.2203G>T	XP_005266489.1:p.Ala735Ser
XM_006719837.2:c.2593G>T	XP_006719900.1:p.Ala865Ser
XM_006719838.1:c.505G>T	XP_006719901.1:p.Ala169Ser
XM_006719839.1:c.505G>T	XP_006719902.1:p.Ala169Ser
XM_011535117.1:c.2593G>T	XP_011533419.1:p.Ala865Ser
XM_011535118.1:c.2689G>T	XP_011533420.1:p.Ala897Ser
XM_011535119.1:c.2689G>T	XP_011533421.1:p.Ala897Ser
XM_011535120.1:c.2275G>T	XP_011533422.1:p.Ala759Ser
XM_011535121.1:c.2689G>T	XP_011533423.1:p.Ala897Ser
XM_011535122.1:c.1357G>T	XP_011533424.1:p.Ala453Ser
XR_941601.1:n.2908G>T
XR_941602.1:n.2908G>T
XR_941603.1:n.2908G>T
XR_941604.1:n.2908G>T
NM_001330578.1:c.2455G>T	NP_001317507.1:p.Ala819Ser
NM_001330579.1:c.2437G>T	NP_001317508.1:p.Ala813Ser
XM_005266424.4:c.2593G>T	XP_005266481.1:p.Ala865Ser
XM_005266430.4:c.2689G>T	XP_005266487.1:p.Ala897Ser
XM_005266431.4:c.2653G>T	XP_005266488.1:p.Ala885Ser
XM_006719837.3:c.2593G>T	XP_006719900.1:p.Ala865Ser
XM_011535117.3:c.2593G>T	XP_011533419.1:p.Ala865Ser
XM_017020627.1:c.2593G>T	XP_016876116.1:p.Ala865Ser
NM_000053.4:c.2689G>T MANE Select	NP_000044.2:p.Ala897Ser
NM_001005918.3:c.2203G>T	NP_001005918.1:p.Ala735Ser
NM_001330579.2:c.2437G>T	NP_001317508.1:p.Ala813Ser
NM_001243182.2:c.2356G>T	NP_001230111.1:p.Ala786Ser
NM_001330578.2:c.2455G>T	NP_001317507.1:p.Ala819Ser