Canonical Allele Identifier: CA388026052

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515243T>G (hg19) ; chr13:g.51941107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941107T>G , CM000675.2:g.51941107T>G	GRCh38
NC_000013.10:g.52515243T>G , CM000675.1:g.52515243T>G	GRCh37
NC_000013.9:g.51413244T>G	NCBI36
NG_008806.1:g.75388A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1180A>C	ENSP00000489512.2:n.*1180A>C
ENST00000673864.2:c.*2274A>C	ENSP00000501045.2:n.*2274A>C
ENST00000674147.2:c.2909A>C	ENSP00000500964.2:p.Gln970Pro
ENST00000242839.10:c.3530A>C MANE Select	ENSP00000242839.5:p.Gln1177Pro
ENST00000344297.9:c.2909A>C	ENSP00000342559.5:p.Gln970Pro
ENST00000400366.6:c.3197A>C	ENSP00000383217.3:p.Gln1066Pro
ENST00000448424.7:c.3278A>C	ENSP00000416738.3:p.Gln1093Pro
ENST00000673772.1:c.3296A>C	ENSP00000501168.1:p.Gln1099Pro
ENST00000673867.1:n.3669A>C
ENST00000674126.1:n.3893A>C
ENST00000674147.1:c.2465A>C	ENSP00000500964.1:p.Gln822Pro
ENST00000242839.8:c.3530A>C	ENSP00000242839.4:p.Gln1177Pro
ENST00000344297.8:c.2909A>C	ENSP00000342559.5:p.Gln970Pro
ENST00000400366.5:c.3197A>C	ENSP00000383217.3:p.Gln1066Pro
ENST00000400370.8:c.2240A>C	ENSP00000383221.3:p.Gln747Pro
ENST00000418097.7:c.3335A>C	ENSP00000393343.2:p.Gln1112Pro
ENST00000448424.6:c.3296A>C	ENSP00000416738.2:p.Gln1099Pro
ENST00000634296.1:c.1308A>C
ENST00000634308.1:c.*631A>C	ENSP00000489234.1:n.*631A>C
ENST00000634620.1:n.4274A>C
ENST00000634810.1:n.2875A>C
ENST00000634844.1:c.3386A>C	ENSP00000489398.1:p.Gln1129Pro
NM_000053.3:c.3530A>C	NP_000044.2:p.Gln1177Pro
NM_001005918.2:c.2909A>C	NP_001005918.1:p.Gln970Pro
NM_001243182.1:c.3197A>C	NP_001230111.1:p.Gln1066Pro
XM_005266423.2:c.3434A>C	XP_005266480.1:p.Gln1145Pro
XM_005266424.3:c.3434A>C	XP_005266481.1:p.Gln1145Pro
XM_005266427.2:c.3296A>C	XP_005266484.1:p.Gln1099Pro
XM_005266428.1:c.3278A>C	XP_005266485.1:p.Gln1093Pro
XM_005266430.3:c.3530A>C	XP_005266487.1:p.Gln1177Pro
XM_005266431.2:c.3494A>C	XP_005266488.1:p.Gln1165Pro
XM_005266432.2:c.3044A>C	XP_005266489.1:p.Gln1015Pro
XM_006719837.2:c.3434A>C	XP_006719900.1:p.Gln1145Pro
XM_006719838.1:c.1346A>C	XP_006719901.1:p.Gln449Pro
XM_006719839.1:c.1163A>C	XP_006719902.1:p.Gln388Pro
XM_011535117.1:c.3434A>C	XP_011533419.1:p.Gln1145Pro
XM_011535118.1:c.3395A>C	XP_011533420.1:p.Gln1132Pro
XM_011535119.1:c.3347A>C	XP_011533421.1:p.Gln1116Pro
XM_011535120.1:c.3116A>C	XP_011533422.1:p.Gln1039Pro
XM_011535121.1:c.3017A>C	XP_011533423.1:p.Gln1006Pro
XM_011535122.1:c.2198A>C	XP_011533424.1:p.Gln733Pro
XR_941601.1:n.3749A>C
XR_941602.1:n.3749A>C
XR_941603.1:n.3749A>C
XR_941604.1:n.3749A>C
NM_001330578.1:c.3296A>C	NP_001317507.1:p.Gln1099Pro
NM_001330579.1:c.3278A>C	NP_001317508.1:p.Gln1093Pro
XM_005266424.4:c.3434A>C	XP_005266481.1:p.Gln1145Pro
XM_005266430.4:c.3530A>C	XP_005266487.1:p.Gln1177Pro
XM_005266431.4:c.3494A>C	XP_005266488.1:p.Gln1165Pro
XM_006719837.3:c.3434A>C	XP_006719900.1:p.Gln1145Pro
XM_011535117.3:c.3434A>C	XP_011533419.1:p.Gln1145Pro
XM_017020627.1:c.3434A>C	XP_016876116.1:p.Gln1145Pro
NM_000053.4:c.3530A>C MANE Select	NP_000044.2:p.Gln1177Pro
NM_001005918.3:c.2909A>C	NP_001005918.1:p.Gln970Pro
NM_001330579.2:c.3278A>C	NP_001317508.1:p.Gln1093Pro
NM_001243182.2:c.3197A>C	NP_001230111.1:p.Gln1066Pro
NM_001330578.2:c.3296A>C	NP_001317507.1:p.Gln1099Pro