Canonical Allele Identifier: CA483894228

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515353G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941217G>C , CM000675.2:g.51941217G>C	GRCh38
NC_000013.10:g.52515353G>C , CM000675.1:g.52515353G>C	GRCh37
NC_000013.9:g.51413354G>C	NCBI36
NG_008806.1:g.75278C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1070C>G	ENSP00000489512.2:n.*1070C>G
ENST00000673864.2:c.*2164C>G	ENSP00000501045.2:n.*2164C>G
ENST00000674147.2:c.2799C>G	ENSP00000500964.2:p.Val933=
ENST00000242839.10:c.3420C>G MANE Select	ENSP00000242839.5:p.Val1140=
ENST00000344297.9:c.2799C>G	ENSP00000342559.5:p.Val933=
ENST00000400366.6:c.3087C>G	ENSP00000383217.3:p.Val1029=
ENST00000448424.7:c.3168C>G	ENSP00000416738.3:p.Val1056=
ENST00000673772.1:c.3186C>G	ENSP00000501168.1:p.Val1062=
ENST00000673867.1:n.3559C>G
ENST00000674126.1:n.3783C>G
ENST00000674147.1:c.2355C>G	ENSP00000500964.1:p.Val785=
ENST00000242839.8:c.3420C>G	ENSP00000242839.4:p.Val1140=
ENST00000344297.8:c.2799C>G	ENSP00000342559.5:p.Val933=
ENST00000400366.5:c.3087C>G	ENSP00000383217.3:p.Val1029=
ENST00000400370.8:c.2130C>G	ENSP00000383221.3:p.Val710=
ENST00000418097.7:c.3225C>G	ENSP00000393343.2:p.Val1075=
ENST00000448424.6:c.3186C>G	ENSP00000416738.2:p.Val1062=
ENST00000634296.1:c.1198C>G
ENST00000634308.1:c.*521C>G	ENSP00000489234.1:n.*521C>G
ENST00000634620.1:n.4164C>G
ENST00000634810.1:n.2765C>G
ENST00000634844.1:c.3276C>G	ENSP00000489398.1:p.Val1092=
NM_000053.3:c.3420C>G	NP_000044.2:p.Val1140=
NM_001005918.2:c.2799C>G	NP_001005918.1:p.Val933=
NM_001243182.1:c.3087C>G	NP_001230111.1:p.Val1029=
XM_005266423.2:c.3324C>G	XP_005266480.1:p.Val1108=
XM_005266424.3:c.3324C>G	XP_005266481.1:p.Val1108=
XM_005266427.2:c.3186C>G	XP_005266484.1:p.Val1062=
XM_005266428.1:c.3168C>G	XP_005266485.1:p.Val1056=
XM_005266430.3:c.3420C>G	XP_005266487.1:p.Val1140=
XM_005266431.2:c.3384C>G	XP_005266488.1:p.Val1128=
XM_005266432.2:c.2934C>G	XP_005266489.1:p.Val978=
XM_006719837.2:c.3324C>G	XP_006719900.1:p.Val1108=
XM_006719838.1:c.1236C>G	XP_006719901.1:p.Val412=
XM_006719839.1:c.1053C>G	XP_006719902.1:p.Val351=
XM_011535117.1:c.3324C>G	XP_011533419.1:p.Val1108=
XM_011535118.1:c.3285C>G	XP_011533420.1:p.Val1095=
XM_011535119.1:c.3237C>G	XP_011533421.1:p.Val1079=
XM_011535120.1:c.3006C>G	XP_011533422.1:p.Val1002=
XM_011535121.1:c.2907C>G	XP_011533423.1:p.Val969=
XM_011535122.1:c.2088C>G	XP_011533424.1:p.Val696=
XR_941601.1:n.3639C>G
XR_941602.1:n.3639C>G
XR_941603.1:n.3639C>G
XR_941604.1:n.3639C>G
NM_001330578.1:c.3186C>G	NP_001317507.1:p.Val1062=
NM_001330579.1:c.3168C>G	NP_001317508.1:p.Val1056=
XM_005266424.4:c.3324C>G	XP_005266481.1:p.Val1108=
XM_005266430.4:c.3420C>G	XP_005266487.1:p.Val1140=
XM_005266431.4:c.3384C>G	XP_005266488.1:p.Val1128=
XM_006719837.3:c.3324C>G	XP_006719900.1:p.Val1108=
XM_011535117.3:c.3324C>G	XP_011533419.1:p.Val1108=
XM_017020627.1:c.3324C>G	XP_016876116.1:p.Val1108=
NM_000053.4:c.3420C>G MANE Select	NP_000044.2:p.Val1140=
NM_001005918.3:c.2799C>G	NP_001005918.1:p.Val933=
NM_001330579.2:c.3168C>G	NP_001317508.1:p.Val1056=
NM_001243182.2:c.3087C>G	NP_001230111.1:p.Val1029=
NM_001330578.2:c.3186C>G	NP_001317507.1:p.Val1062=