Canonical Allele Identifier: CA388026464

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515296T>G (hg19) ; chr13:g.51941160T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941160T>G , CM000675.2:g.51941160T>G	GRCh38
NC_000013.10:g.52515296T>G , CM000675.1:g.52515296T>G	GRCh37
NC_000013.9:g.51413297T>G	NCBI36
NG_008806.1:g.75335A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1127A>C	ENSP00000489512.2:n.*1127A>C
ENST00000673864.2:c.*2221A>C	ENSP00000501045.2:n.*2221A>C
ENST00000674147.2:c.2856A>C	ENSP00000500964.2:p.Leu952Phe
ENST00000242839.10:c.3477A>C MANE Select	ENSP00000242839.5:p.Leu1159Phe
ENST00000344297.9:c.2856A>C	ENSP00000342559.5:p.Leu952Phe
ENST00000400366.6:c.3144A>C	ENSP00000383217.3:p.Leu1048Phe
ENST00000448424.7:c.3225A>C	ENSP00000416738.3:p.Leu1075Phe
ENST00000673772.1:c.3243A>C	ENSP00000501168.1:p.Leu1081Phe
ENST00000673867.1:n.3616A>C
ENST00000674126.1:n.3840A>C
ENST00000674147.1:c.2412A>C	ENSP00000500964.1:p.Leu804Phe
ENST00000242839.8:c.3477A>C	ENSP00000242839.4:p.Leu1159Phe
ENST00000344297.8:c.2856A>C	ENSP00000342559.5:p.Leu952Phe
ENST00000400366.5:c.3144A>C	ENSP00000383217.3:p.Leu1048Phe
ENST00000400370.8:c.2187A>C	ENSP00000383221.3:p.Leu729Phe
ENST00000418097.7:c.3282A>C	ENSP00000393343.2:p.Leu1094Phe
ENST00000448424.6:c.3243A>C	ENSP00000416738.2:p.Leu1081Phe
ENST00000634296.1:c.1255A>C
ENST00000634308.1:c.*578A>C	ENSP00000489234.1:n.*578A>C
ENST00000634620.1:n.4221A>C
ENST00000634810.1:n.2822A>C
ENST00000634844.1:c.3333A>C	ENSP00000489398.1:p.Leu1111Phe
NM_000053.3:c.3477A>C	NP_000044.2:p.Leu1159Phe
NM_001005918.2:c.2856A>C	NP_001005918.1:p.Leu952Phe
NM_001243182.1:c.3144A>C	NP_001230111.1:p.Leu1048Phe
XM_005266423.2:c.3381A>C	XP_005266480.1:p.Leu1127Phe
XM_005266424.3:c.3381A>C	XP_005266481.1:p.Leu1127Phe
XM_005266427.2:c.3243A>C	XP_005266484.1:p.Leu1081Phe
XM_005266428.1:c.3225A>C	XP_005266485.1:p.Leu1075Phe
XM_005266430.3:c.3477A>C	XP_005266487.1:p.Leu1159Phe
XM_005266431.2:c.3441A>C	XP_005266488.1:p.Leu1147Phe
XM_005266432.2:c.2991A>C	XP_005266489.1:p.Leu997Phe
XM_006719837.2:c.3381A>C	XP_006719900.1:p.Leu1127Phe
XM_006719838.1:c.1293A>C	XP_006719901.1:p.Leu431Phe
XM_006719839.1:c.1110A>C	XP_006719902.1:p.Leu370Phe
XM_011535117.1:c.3381A>C	XP_011533419.1:p.Leu1127Phe
XM_011535118.1:c.3342A>C	XP_011533420.1:p.Leu1114Phe
XM_011535119.1:c.3294A>C	XP_011533421.1:p.Leu1098Phe
XM_011535120.1:c.3063A>C	XP_011533422.1:p.Leu1021Phe
XM_011535121.1:c.2964A>C	XP_011533423.1:p.Leu988Phe
XM_011535122.1:c.2145A>C	XP_011533424.1:p.Leu715Phe
XR_941601.1:n.3696A>C
XR_941602.1:n.3696A>C
XR_941603.1:n.3696A>C
XR_941604.1:n.3696A>C
NM_001330578.1:c.3243A>C	NP_001317507.1:p.Leu1081Phe
NM_001330579.1:c.3225A>C	NP_001317508.1:p.Leu1075Phe
XM_005266424.4:c.3381A>C	XP_005266481.1:p.Leu1127Phe
XM_005266430.4:c.3477A>C	XP_005266487.1:p.Leu1159Phe
XM_005266431.4:c.3441A>C	XP_005266488.1:p.Leu1147Phe
XM_006719837.3:c.3381A>C	XP_006719900.1:p.Leu1127Phe
XM_011535117.3:c.3381A>C	XP_011533419.1:p.Leu1127Phe
XM_017020627.1:c.3381A>C	XP_016876116.1:p.Leu1127Phe
NM_000053.4:c.3477A>C MANE Select	NP_000044.2:p.Leu1159Phe
NM_001005918.3:c.2856A>C	NP_001005918.1:p.Leu952Phe
NM_001330579.2:c.3225A>C	NP_001317508.1:p.Leu1075Phe
NM_001243182.2:c.3144A>C	NP_001230111.1:p.Leu1048Phe
NM_001330578.2:c.3243A>C	NP_001317507.1:p.Leu1081Phe