Canonical Allele Identifier: CA388032074

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520481C>G (hg19) ; chr13:g.51946345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946345C>G , CM000675.2:g.51946345C>G	GRCh38
NC_000013.10:g.52520481C>G , CM000675.1:g.52520481C>G	GRCh37
NC_000013.9:g.51418482C>G	NCBI36
NG_008806.1:g.70150G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*832G>C	ENSP00000489512.2:n.*832G>C
ENST00000673864.2:c.*1743G>C	ENSP00000501045.2:n.*1743G>C
ENST00000674147.2:c.2378G>C	ENSP00000500964.2:p.Gly793Ala
ENST00000242839.10:c.2999G>C MANE Select	ENSP00000242839.5:p.Gly1000Ala
ENST00000344297.9:c.2378G>C	ENSP00000342559.5:p.Gly793Ala
ENST00000400366.6:c.2666G>C	ENSP00000383217.3:p.Gly889Ala
ENST00000448424.7:c.2747G>C	ENSP00000416738.3:p.Gly916Ala
ENST00000673772.1:c.2765G>C	ENSP00000501168.1:p.Gly922Ala
ENST00000673867.1:n.1146G>C
ENST00000674126.1:n.3362G>C
ENST00000674147.1:c.1934G>C	ENSP00000500964.1:p.Gly645Ala
ENST00000242839.8:c.2999G>C	ENSP00000242839.4:p.Gly1000Ala
ENST00000344297.8:c.2378G>C	ENSP00000342559.5:p.Gly793Ala
ENST00000400366.5:c.2666G>C	ENSP00000383217.3:p.Gly889Ala
ENST00000400370.8:c.1709G>C	ENSP00000383221.3:p.Gly570Ala
ENST00000418097.7:c.2866-2054G>C	ENSP00000393343.2:n.2866-2054G>C
ENST00000448424.6:c.2765G>C	ENSP00000416738.2:p.Gly922Ala
ENST00000466629.1:n.219G>C
ENST00000634296.1:c.960G>C
ENST00000634308.1:c.*100G>C	ENSP00000489234.1:n.*100G>C
ENST00000634620.1:n.3743G>C
ENST00000634810.1:n.2344G>C
ENST00000634844.1:c.2855G>C	ENSP00000489398.1:p.Gly952Ala
ENST00000635406.1:n.345G>C
NM_000053.3:c.2999G>C	NP_000044.2:p.Gly1000Ala
NM_001005918.2:c.2378G>C	NP_001005918.1:p.Gly793Ala
NM_001243182.1:c.2666G>C	NP_001230111.1:p.Gly889Ala
XM_005266423.2:c.2903G>C	XP_005266480.1:p.Gly968Ala
XM_005266424.3:c.2903G>C	XP_005266481.1:p.Gly968Ala
XM_005266427.2:c.2765G>C	XP_005266484.1:p.Gly922Ala
XM_005266428.1:c.2747G>C	XP_005266485.1:p.Gly916Ala
XM_005266430.3:c.2999G>C	XP_005266487.1:p.Gly1000Ala
XM_005266431.2:c.2963G>C	XP_005266488.1:p.Gly988Ala
XM_005266432.2:c.2513G>C	XP_005266489.1:p.Gly838Ala
XM_006719837.2:c.2903G>C	XP_006719900.1:p.Gly968Ala
XM_006719838.1:c.815G>C	XP_006719901.1:p.Gly272Ala
XM_006719839.1:c.815G>C	XP_006719902.1:p.Gly272Ala
XM_011535117.1:c.2903G>C	XP_011533419.1:p.Gly968Ala
XM_011535118.1:c.2864G>C	XP_011533420.1:p.Gly955Ala
XM_011535119.1:c.2999G>C	XP_011533421.1:p.Gly1000Ala
XM_011535120.1:c.2585G>C	XP_011533422.1:p.Gly862Ala
XM_011535121.1:c.2730+3662G>C	XP_011533423.1:n.2730+3662G>C
XM_011535122.1:c.1667G>C	XP_011533424.1:p.Gly556Ala
XR_941601.1:n.3218G>C
XR_941602.1:n.3218G>C
XR_941603.1:n.3218G>C
XR_941604.1:n.3218G>C
NM_001330578.1:c.2765G>C	NP_001317507.1:p.Gly922Ala
NM_001330579.1:c.2747G>C	NP_001317508.1:p.Gly916Ala
XM_005266424.4:c.2903G>C	XP_005266481.1:p.Gly968Ala
XM_005266430.4:c.2999G>C	XP_005266487.1:p.Gly1000Ala
XM_005266431.4:c.2963G>C	XP_005266488.1:p.Gly988Ala
XM_006719837.3:c.2903G>C	XP_006719900.1:p.Gly968Ala
XM_011535117.3:c.2903G>C	XP_011533419.1:p.Gly968Ala
XM_017020627.1:c.2903G>C	XP_016876116.1:p.Gly968Ala
NM_000053.4:c.2999G>C MANE Select	NP_000044.2:p.Gly1000Ala
NM_001005918.3:c.2378G>C	NP_001005918.1:p.Gly793Ala
NM_001330579.2:c.2747G>C	NP_001317508.1:p.Gly916Ala
NM_001243182.2:c.2666G>C	NP_001230111.1:p.Gly889Ala
NM_001330578.2:c.2765G>C	NP_001317507.1:p.Gly922Ala