Canonical Allele Identifier: CA388021292

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511529T>G (hg19) ; chr13:g.51937393T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937393T>G , CM000675.2:g.51937393T>G	GRCh38
NC_000013.10:g.52511529T>G , CM000675.1:g.52511529T>G	GRCh37
NC_000013.9:g.51409530T>G	NCBI36
NG_008806.1:g.79102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1554A>C	ENSP00000489512.2:n.*1554A>C
ENST00000673864.2:c.*2648A>C	ENSP00000501045.2:n.*2648A>C
ENST00000674147.2:c.3283A>C	ENSP00000500964.2:p.Asn1095His
ENST00000242839.10:c.3904A>C MANE Select	ENSP00000242839.5:p.Asn1302His
ENST00000344297.9:c.3283A>C	ENSP00000342559.5:p.Asn1095His
ENST00000400366.6:c.3571A>C	ENSP00000383217.3:p.Asn1191His
ENST00000448424.7:c.3652A>C	ENSP00000416738.3:p.Asn1218His
ENST00000673696.1:n.1227A>C
ENST00000673772.1:c.3670A>C	ENSP00000501168.1:p.Asn1224His
ENST00000673867.1:n.4043A>C
ENST00000673923.1:n.770A>C
ENST00000674147.1:c.2839A>C	ENSP00000500964.1:p.Asn947His
ENST00000242839.8:c.3904A>C	ENSP00000242839.4:p.Asn1302His
ENST00000344297.8:c.3283A>C	ENSP00000342559.5:p.Asn1095His
ENST00000400366.5:c.3571A>C	ENSP00000383217.3:p.Asn1191His
ENST00000400370.8:c.2614A>C	ENSP00000383221.3:p.Asn872His
ENST00000418097.7:c.3709A>C	ENSP00000393343.2:p.Asn1237His
ENST00000448424.6:c.3670A>C	ENSP00000416738.2:p.Asn1224His
ENST00000634296.1:c.1682A>C
ENST00000634308.1:c.*1005A>C	ENSP00000489234.1:n.*1005A>C
ENST00000634620.1:n.4648A>C
ENST00000634810.1:n.3249A>C
ENST00000634844.1:c.3760A>C	ENSP00000489398.1:p.Asn1254His
NM_000053.3:c.3904A>C	NP_000044.2:p.Asn1302His
NM_001005918.2:c.3283A>C	NP_001005918.1:p.Asn1095His
NM_001243182.1:c.3571A>C	NP_001230111.1:p.Asn1191His
XM_005266423.2:c.3808A>C	XP_005266480.1:p.Asn1270His
XM_005266424.3:c.3808A>C	XP_005266481.1:p.Asn1270His
XM_005266427.2:c.3670A>C	XP_005266484.1:p.Asn1224His
XM_005266428.1:c.3652A>C	XP_005266485.1:p.Asn1218His
XM_005266430.3:c.3904A>C	XP_005266487.1:p.Asn1302His
XM_005266431.2:c.3868A>C	XP_005266488.1:p.Asn1290His
XM_005266432.2:c.3418A>C	XP_005266489.1:p.Asn1140His
XM_006719837.2:c.3808A>C	XP_006719900.1:p.Asn1270His
XM_006719838.1:c.1720A>C	XP_006719901.1:p.Asn574His
XM_006719839.1:c.1537A>C	XP_006719902.1:p.Asn513His
XM_011535117.1:c.3808A>C	XP_011533419.1:p.Asn1270His
XM_011535118.1:c.3769A>C	XP_011533420.1:p.Asn1257His
XM_011535119.1:c.3721A>C	XP_011533421.1:p.Asn1241His
XM_011535120.1:c.3490A>C	XP_011533422.1:p.Asn1164His
XM_011535121.1:c.3391A>C	XP_011533423.1:p.Asn1131His
XM_011535122.1:c.2572A>C	XP_011533424.1:p.Asn858His
XR_941601.1:n.4123A>C
XR_941602.1:n.4123A>C
XR_941603.1:n.4123A>C
XR_941604.1:n.4123A>C
NM_001330578.1:c.3670A>C	NP_001317507.1:p.Asn1224His
NM_001330579.1:c.3652A>C	NP_001317508.1:p.Asn1218His
XM_005266424.4:c.3808A>C	XP_005266481.1:p.Asn1270His
XM_005266430.4:c.3904A>C	XP_005266487.1:p.Asn1302His
XM_005266431.4:c.3868A>C	XP_005266488.1:p.Asn1290His
XM_006719837.3:c.3808A>C	XP_006719900.1:p.Asn1270His
XM_011535117.3:c.3808A>C	XP_011533419.1:p.Asn1270His
XM_017020627.1:c.3808A>C	XP_016876116.1:p.Asn1270His
NM_000053.4:c.3904A>C MANE Select	NP_000044.2:p.Asn1302His
NM_001005918.3:c.3283A>C	NP_001005918.1:p.Asn1095His
NM_001330579.2:c.3652A>C	NP_001317508.1:p.Asn1218His
NM_001243182.2:c.3571A>C	NP_001230111.1:p.Asn1191His
NM_001330578.2:c.3670A>C	NP_001317507.1:p.Asn1224His