Canonical Allele Identifier: CA2091559473

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941152G= , CM000675.2:g.51941152G=	GRCh38
NC_000013.10:g.52515288G= , CM000675.1:g.52515288G=	GRCh37
NC_000013.9:g.51413289G=	NCBI36
NG_008806.1:g.75343C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1135C=	ENSP00000489512.2:n.*1135C=
ENST00000673864.2:c.*2229C=	ENSP00000501045.2:n.*2229C=
ENST00000674147.2:c.2864C=	ENSP00000500964.2:p.Ser955=
ENST00000242839.10:c.3485C= MANE Select	ENSP00000242839.5:p.Ser1162=
ENST00000344297.9:c.2864C=	ENSP00000342559.5:p.Ser955=
ENST00000400366.6:c.3152C=	ENSP00000383217.3:p.Ser1051=
ENST00000448424.7:c.3233C=	ENSP00000416738.3:p.Ser1078=
ENST00000673772.1:c.3251C=	ENSP00000501168.1:p.Ser1084=
ENST00000673867.1:n.3624C=
ENST00000674126.1:n.3848C=
ENST00000674147.1:c.2420C=	ENSP00000500964.1:p.Ser807=
ENST00000242839.8:c.3485C=	ENSP00000242839.4:p.Ser1162=
ENST00000344297.8:c.2864C=	ENSP00000342559.5:p.Ser955=
ENST00000400366.5:c.3152C=	ENSP00000383217.3:p.Ser1051=
ENST00000400370.8:c.2195C=	ENSP00000383221.3:p.Ser732=
ENST00000418097.7:c.3290C=	ENSP00000393343.2:p.Ser1097=
ENST00000448424.6:c.3251C=	ENSP00000416738.2:p.Ser1084=
ENST00000634296.1:c.1263C=
ENST00000634308.1:c.*586C=	ENSP00000489234.1:n.*586C=
ENST00000634620.1:n.4229C=
ENST00000634810.1:n.2830C=
ENST00000634844.1:c.3341C=	ENSP00000489398.1:p.Ser1114=
NM_000053.3:c.3485C=	NP_000044.2:p.Ser1162=
NM_001005918.2:c.2864C=	NP_001005918.1:p.Ser955=
NM_001243182.1:c.3152C=	NP_001230111.1:p.Ser1051=
XM_005266423.2:c.3389C=	XP_005266480.1:p.Ser1130=
XM_005266424.3:c.3389C=	XP_005266481.1:p.Ser1130=
XM_005266427.2:c.3251C=	XP_005266484.1:p.Ser1084=
XM_005266428.1:c.3233C=	XP_005266485.1:p.Ser1078=
XM_005266430.3:c.3485C=	XP_005266487.1:p.Ser1162=
XM_005266431.2:c.3449C=	XP_005266488.1:p.Ser1150=
XM_005266432.2:c.2999C=	XP_005266489.1:p.Ser1000=
XM_006719837.2:c.3389C=	XP_006719900.1:p.Ser1130=
XM_006719838.1:c.1301C=	XP_006719901.1:p.Ser434=
XM_006719839.1:c.1118C=	XP_006719902.1:p.Ser373=
XM_011535117.1:c.3389C=	XP_011533419.1:p.Ser1130=
XM_011535118.1:c.3350C=	XP_011533420.1:p.Ser1117=
XM_011535119.1:c.3302C=	XP_011533421.1:p.Ser1101=
XM_011535120.1:c.3071C=	XP_011533422.1:p.Ser1024=
XM_011535121.1:c.2972C=	XP_011533423.1:p.Ser991=
XM_011535122.1:c.2153C=	XP_011533424.1:p.Ser718=
XR_941601.1:n.3704C=
XR_941602.1:n.3704C=
XR_941603.1:n.3704C=
XR_941604.1:n.3704C=
NM_001330578.1:c.3251C=	NP_001317507.1:p.Ser1084=
NM_001330579.1:c.3233C=	NP_001317508.1:p.Ser1078=
XM_005266424.4:c.3389C=	XP_005266481.1:p.Ser1130=
XM_005266430.4:c.3485C=	XP_005266487.1:p.Ser1162=
XM_005266431.4:c.3449C=	XP_005266488.1:p.Ser1150=
XM_006719837.3:c.3389C=	XP_006719900.1:p.Ser1130=
XM_011535117.3:c.3389C=	XP_011533419.1:p.Ser1130=
XM_017020627.1:c.3389C=	XP_016876116.1:p.Ser1130=
NM_000053.4:c.3485C= MANE Select	NP_000044.2:p.Ser1162=
NM_001005918.3:c.2864C=	NP_001005918.1:p.Ser955=
NM_001330579.2:c.3233C=	NP_001317508.1:p.Ser1078=
NM_001243182.2:c.3152C=	NP_001230111.1:p.Ser1051=
NM_001330578.2:c.3251C=	NP_001317507.1:p.Ser1084=