Canonical Allele Identifier: CA388021197

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511508C>A (hg19) ; chr13:g.51937372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937372C>A , CM000675.2:g.51937372C>A	GRCh38
NC_000013.10:g.52511508C>A , CM000675.1:g.52511508C>A	GRCh37
NC_000013.9:g.51409509C>A	NCBI36
NG_008806.1:g.79123G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1575G>T	ENSP00000489512.2:n.*1575G>T
ENST00000673864.2:c.*2669G>T	ENSP00000501045.2:n.*2669G>T
ENST00000674147.2:c.3304G>T	ENSP00000500964.2:p.Ala1102Ser
ENST00000242839.10:c.3925G>T MANE Select	ENSP00000242839.5:p.Ala1309Ser
ENST00000344297.9:c.3304G>T	ENSP00000342559.5:p.Ala1102Ser
ENST00000400366.6:c.3592G>T	ENSP00000383217.3:p.Ala1198Ser
ENST00000448424.7:c.3673G>T	ENSP00000416738.3:p.Ala1225Ser
ENST00000673696.1:n.1248G>T
ENST00000673772.1:c.3691G>T	ENSP00000501168.1:p.Ala1231Ser
ENST00000673867.1:n.4064G>T
ENST00000673923.1:n.791G>T
ENST00000674147.1:c.2860G>T	ENSP00000500964.1:p.Ala954Ser
ENST00000242839.8:c.3925G>T	ENSP00000242839.4:p.Ala1309Ser
ENST00000344297.8:c.3304G>T	ENSP00000342559.5:p.Ala1102Ser
ENST00000400366.5:c.3592G>T	ENSP00000383217.3:p.Ala1198Ser
ENST00000400370.8:c.2635G>T	ENSP00000383221.3:p.Ala879Ser
ENST00000418097.7:c.3730G>T	ENSP00000393343.2:p.Ala1244Ser
ENST00000448424.6:c.3691G>T	ENSP00000416738.2:p.Ala1231Ser
ENST00000634296.1:c.1703G>T
ENST00000634308.1:c.*1026G>T	ENSP00000489234.1:n.*1026G>T
ENST00000634620.1:n.4669G>T
ENST00000634810.1:n.3270G>T
ENST00000634844.1:c.3781G>T	ENSP00000489398.1:p.Ala1261Ser
NM_000053.3:c.3925G>T	NP_000044.2:p.Ala1309Ser
NM_001005918.2:c.3304G>T	NP_001005918.1:p.Ala1102Ser
NM_001243182.1:c.3592G>T	NP_001230111.1:p.Ala1198Ser
XM_005266423.2:c.3829G>T	XP_005266480.1:p.Ala1277Ser
XM_005266424.3:c.3829G>T	XP_005266481.1:p.Ala1277Ser
XM_005266427.2:c.3691G>T	XP_005266484.1:p.Ala1231Ser
XM_005266428.1:c.3673G>T	XP_005266485.1:p.Ala1225Ser
XM_005266430.3:c.3925G>T	XP_005266487.1:p.Ala1309Ser
XM_005266431.2:c.3889G>T	XP_005266488.1:p.Ala1297Ser
XM_005266432.2:c.3439G>T	XP_005266489.1:p.Ala1147Ser
XM_006719837.2:c.3829G>T	XP_006719900.1:p.Ala1277Ser
XM_006719838.1:c.1741G>T	XP_006719901.1:p.Ala581Ser
XM_006719839.1:c.1558G>T	XP_006719902.1:p.Ala520Ser
XM_011535117.1:c.3829G>T	XP_011533419.1:p.Ala1277Ser
XM_011535118.1:c.3790G>T	XP_011533420.1:p.Ala1264Ser
XM_011535119.1:c.3742G>T	XP_011533421.1:p.Ala1248Ser
XM_011535120.1:c.3511G>T	XP_011533422.1:p.Ala1171Ser
XM_011535121.1:c.3412G>T	XP_011533423.1:p.Ala1138Ser
XM_011535122.1:c.2593G>T	XP_011533424.1:p.Ala865Ser
XR_941601.1:n.4144G>T
XR_941602.1:n.4144G>T
XR_941603.1:n.4144G>T
XR_941604.1:n.4144G>T
NM_001330578.1:c.3691G>T	NP_001317507.1:p.Ala1231Ser
NM_001330579.1:c.3673G>T	NP_001317508.1:p.Ala1225Ser
XM_005266424.4:c.3829G>T	XP_005266481.1:p.Ala1277Ser
XM_005266430.4:c.3925G>T	XP_005266487.1:p.Ala1309Ser
XM_005266431.4:c.3889G>T	XP_005266488.1:p.Ala1297Ser
XM_006719837.3:c.3829G>T	XP_006719900.1:p.Ala1277Ser
XM_011535117.3:c.3829G>T	XP_011533419.1:p.Ala1277Ser
XM_017020627.1:c.3829G>T	XP_016876116.1:p.Ala1277Ser
NM_000053.4:c.3925G>T MANE Select	NP_000044.2:p.Ala1309Ser
NM_001005918.3:c.3304G>T	NP_001005918.1:p.Ala1102Ser
NM_001330579.2:c.3673G>T	NP_001317508.1:p.Ala1225Ser
NM_001243182.2:c.3592G>T	NP_001230111.1:p.Ala1198Ser
NM_001330578.2:c.3691G>T	NP_001317507.1:p.Ala1231Ser