Canonical Allele Identifier: CA388021198

Gene: ATP7B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1575G>C	ENSP00000489512.2:n.*1575G>C
ENST00000673864.2:c.*2669G>C	ENSP00000501045.2:n.*2669G>C
ENST00000674147.2:c.3304G>C	ENSP00000500964.2:p.Ala1102Pro
ENST00000242839.10:c.3925G>C MANE Select	ENSP00000242839.5:p.Ala1309Pro
ENST00000344297.9:c.3304G>C	ENSP00000342559.5:p.Ala1102Pro
ENST00000400366.6:c.3592G>C	ENSP00000383217.3:p.Ala1198Pro
ENST00000448424.7:c.3673G>C	ENSP00000416738.3:p.Ala1225Pro
ENST00000673696.1:n.1248G>C
ENST00000673772.1:c.3691G>C	ENSP00000501168.1:p.Ala1231Pro
ENST00000673867.1:n.4064G>C
ENST00000673923.1:n.791G>C
ENST00000674147.1:c.2860G>C	ENSP00000500964.1:p.Ala954Pro
ENST00000242839.8:c.3925G>C	ENSP00000242839.4:p.Ala1309Pro
ENST00000344297.8:c.3304G>C	ENSP00000342559.5:p.Ala1102Pro
ENST00000400366.5:c.3592G>C	ENSP00000383217.3:p.Ala1198Pro
ENST00000400370.8:c.2635G>C	ENSP00000383221.3:p.Ala879Pro
ENST00000418097.7:c.3730G>C	ENSP00000393343.2:p.Ala1244Pro
ENST00000448424.6:c.3691G>C	ENSP00000416738.2:p.Ala1231Pro
ENST00000634296.1:c.1703G>C
ENST00000634308.1:c.*1026G>C	ENSP00000489234.1:n.*1026G>C
ENST00000634620.1:n.4669G>C
ENST00000634810.1:n.3270G>C
ENST00000634844.1:c.3781G>C	ENSP00000489398.1:p.Ala1261Pro
NM_000053.3:c.3925G>C	NP_000044.2:p.Ala1309Pro
NM_001005918.2:c.3304G>C	NP_001005918.1:p.Ala1102Pro
NM_001243182.1:c.3592G>C	NP_001230111.1:p.Ala1198Pro
XM_005266423.2:c.3829G>C	XP_005266480.1:p.Ala1277Pro
XM_005266424.3:c.3829G>C	XP_005266481.1:p.Ala1277Pro
XM_005266427.2:c.3691G>C	XP_005266484.1:p.Ala1231Pro
XM_005266428.1:c.3673G>C	XP_005266485.1:p.Ala1225Pro
XM_005266430.3:c.3925G>C	XP_005266487.1:p.Ala1309Pro
XM_005266431.2:c.3889G>C	XP_005266488.1:p.Ala1297Pro
XM_005266432.2:c.3439G>C	XP_005266489.1:p.Ala1147Pro
XM_006719837.2:c.3829G>C	XP_006719900.1:p.Ala1277Pro
XM_006719838.1:c.1741G>C	XP_006719901.1:p.Ala581Pro
XM_006719839.1:c.1558G>C	XP_006719902.1:p.Ala520Pro
XM_011535117.1:c.3829G>C	XP_011533419.1:p.Ala1277Pro
XM_011535118.1:c.3790G>C	XP_011533420.1:p.Ala1264Pro
XM_011535119.1:c.3742G>C	XP_011533421.1:p.Ala1248Pro
XM_011535120.1:c.3511G>C	XP_011533422.1:p.Ala1171Pro
XM_011535121.1:c.3412G>C	XP_011533423.1:p.Ala1138Pro
XM_011535122.1:c.2593G>C	XP_011533424.1:p.Ala865Pro
XR_941601.1:n.4144G>C
XR_941602.1:n.4144G>C
XR_941603.1:n.4144G>C
XR_941604.1:n.4144G>C
NM_001330578.1:c.3691G>C	NP_001317507.1:p.Ala1231Pro
NM_001330579.1:c.3673G>C	NP_001317508.1:p.Ala1225Pro
XM_005266424.4:c.3829G>C	XP_005266481.1:p.Ala1277Pro
XM_005266430.4:c.3925G>C	XP_005266487.1:p.Ala1309Pro
XM_005266431.4:c.3889G>C	XP_005266488.1:p.Ala1297Pro
XM_006719837.3:c.3829G>C	XP_006719900.1:p.Ala1277Pro
XM_011535117.3:c.3829G>C	XP_011533419.1:p.Ala1277Pro
XM_017020627.1:c.3829G>C	XP_016876116.1:p.Ala1277Pro
NM_000053.4:c.3925G>C MANE Select	NP_000044.2:p.Ala1309Pro
NM_001005918.3:c.3304G>C	NP_001005918.1:p.Ala1102Pro
NM_001330579.2:c.3673G>C	NP_001317508.1:p.Ala1225Pro
NM_001243182.2:c.3592G>C	NP_001230111.1:p.Ala1198Pro
NM_001330578.2:c.3691G>C	NP_001317507.1:p.Ala1231Pro