Canonical Allele Identifier: CA388021140

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511492G>C (hg19) ; chr13:g.51937356G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937356G>C , CM000675.2:g.51937356G>C	GRCh38
NC_000013.10:g.52511492G>C , CM000675.1:g.52511492G>C	GRCh37
NC_000013.9:g.51409493G>C	NCBI36
NG_008806.1:g.79139C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1591C>G	ENSP00000489512.2:n.*1591C>G
ENST00000673864.2:c.*2685C>G	ENSP00000501045.2:n.*2685C>G
ENST00000674147.2:c.3320C>G	ENSP00000500964.2:p.Ser1107Cys
ENST00000242839.10:c.3941C>G MANE Select	ENSP00000242839.5:p.Ser1314Cys
ENST00000344297.9:c.3320C>G	ENSP00000342559.5:p.Ser1107Cys
ENST00000400366.6:c.3608C>G	ENSP00000383217.3:p.Ser1203Cys
ENST00000448424.7:c.3689C>G	ENSP00000416738.3:p.Ser1230Cys
ENST00000673696.1:n.1264C>G
ENST00000673772.1:c.3707C>G	ENSP00000501168.1:p.Ser1236Cys
ENST00000673867.1:n.4080C>G
ENST00000673923.1:n.807C>G
ENST00000674147.1:c.2876C>G	ENSP00000500964.1:p.Ser959Cys
ENST00000242839.8:c.3941C>G	ENSP00000242839.4:p.Ser1314Cys
ENST00000344297.8:c.3320C>G	ENSP00000342559.5:p.Ser1107Cys
ENST00000400366.5:c.3608C>G	ENSP00000383217.3:p.Ser1203Cys
ENST00000400370.8:c.2651C>G	ENSP00000383221.3:p.Ser884Cys
ENST00000418097.7:c.3746C>G	ENSP00000393343.2:p.Ser1249Cys
ENST00000448424.6:c.3707C>G	ENSP00000416738.2:p.Ser1236Cys
ENST00000634296.1:c.1719C>G
ENST00000634308.1:c.*1042C>G	ENSP00000489234.1:n.*1042C>G
ENST00000634620.1:n.4685C>G
ENST00000634810.1:n.3286C>G
ENST00000634844.1:c.3797C>G	ENSP00000489398.1:p.Ser1266Cys
NM_000053.3:c.3941C>G	NP_000044.2:p.Ser1314Cys
NM_001005918.2:c.3320C>G	NP_001005918.1:p.Ser1107Cys
NM_001243182.1:c.3608C>G	NP_001230111.1:p.Ser1203Cys
XM_005266423.2:c.3845C>G	XP_005266480.1:p.Ser1282Cys
XM_005266424.3:c.3845C>G	XP_005266481.1:p.Ser1282Cys
XM_005266427.2:c.3707C>G	XP_005266484.1:p.Ser1236Cys
XM_005266428.1:c.3689C>G	XP_005266485.1:p.Ser1230Cys
XM_005266430.3:c.3941C>G	XP_005266487.1:p.Ser1314Cys
XM_005266431.2:c.3905C>G	XP_005266488.1:p.Ser1302Cys
XM_005266432.2:c.3455C>G	XP_005266489.1:p.Ser1152Cys
XM_006719837.2:c.3845C>G	XP_006719900.1:p.Ser1282Cys
XM_006719838.1:c.1757C>G	XP_006719901.1:p.Ser586Cys
XM_006719839.1:c.1574C>G	XP_006719902.1:p.Ser525Cys
XM_011535117.1:c.3845C>G	XP_011533419.1:p.Ser1282Cys
XM_011535118.1:c.3806C>G	XP_011533420.1:p.Ser1269Cys
XM_011535119.1:c.3758C>G	XP_011533421.1:p.Ser1253Cys
XM_011535120.1:c.3527C>G	XP_011533422.1:p.Ser1176Cys
XM_011535121.1:c.3428C>G	XP_011533423.1:p.Ser1143Cys
XM_011535122.1:c.2609C>G	XP_011533424.1:p.Ser870Cys
XR_941601.1:n.4160C>G
XR_941602.1:n.4160C>G
XR_941603.1:n.4160C>G
XR_941604.1:n.4160C>G
NM_001330578.1:c.3707C>G	NP_001317507.1:p.Ser1236Cys
NM_001330579.1:c.3689C>G	NP_001317508.1:p.Ser1230Cys
XM_005266424.4:c.3845C>G	XP_005266481.1:p.Ser1282Cys
XM_005266430.4:c.3941C>G	XP_005266487.1:p.Ser1314Cys
XM_005266431.4:c.3905C>G	XP_005266488.1:p.Ser1302Cys
XM_006719837.3:c.3845C>G	XP_006719900.1:p.Ser1282Cys
XM_011535117.3:c.3845C>G	XP_011533419.1:p.Ser1282Cys
XM_017020627.1:c.3845C>G	XP_016876116.1:p.Ser1282Cys
NM_000053.4:c.3941C>G MANE Select	NP_000044.2:p.Ser1314Cys
NM_001005918.3:c.3320C>G	NP_001005918.1:p.Ser1107Cys
NM_001330579.2:c.3689C>G	NP_001317508.1:p.Ser1230Cys
NM_001243182.2:c.3608C>G	NP_001230111.1:p.Ser1203Cys
NM_001330578.2:c.3707C>G	NP_001317507.1:p.Ser1236Cys