Canonical Allele Identifier: CA388032310

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520532C>G (hg19) ; chr13:g.51946396C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946396C>G , CM000675.2:g.51946396C>G	GRCh38
NC_000013.10:g.52520532C>G , CM000675.1:g.52520532C>G	GRCh37
NC_000013.9:g.51418533C>G	NCBI36
NG_008806.1:g.70099G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*781G>C	ENSP00000489512.2:n.*781G>C
ENST00000673864.2:c.*1692G>C	ENSP00000501045.2:n.*1692G>C
ENST00000674147.2:c.2327G>C	ENSP00000500964.2:p.Cys776Ser
ENST00000242839.10:c.2948G>C MANE Select	ENSP00000242839.5:p.Cys983Ser
ENST00000344297.9:c.2327G>C	ENSP00000342559.5:p.Cys776Ser
ENST00000400366.6:c.2615G>C	ENSP00000383217.3:p.Cys872Ser
ENST00000448424.7:c.2696G>C	ENSP00000416738.3:p.Cys899Ser
ENST00000673772.1:c.2714G>C	ENSP00000501168.1:p.Cys905Ser
ENST00000673867.1:n.1095G>C
ENST00000674126.1:n.3311G>C
ENST00000674147.1:c.1883G>C	ENSP00000500964.1:p.Cys628Ser
ENST00000242839.8:c.2948G>C	ENSP00000242839.4:p.Cys983Ser
ENST00000344297.8:c.2327G>C	ENSP00000342559.5:p.Cys776Ser
ENST00000400366.5:c.2615G>C	ENSP00000383217.3:p.Cys872Ser
ENST00000400370.8:c.1658G>C	ENSP00000383221.3:p.Cys553Ser
ENST00000418097.7:c.2866-2105G>C	ENSP00000393343.2:n.2866-2105G>C
ENST00000448424.6:c.2714G>C	ENSP00000416738.2:p.Cys905Ser
ENST00000466629.1:n.168G>C
ENST00000634296.1:c.909G>C
ENST00000634308.1:c.*49G>C	ENSP00000489234.1:n.*49G>C
ENST00000634620.1:n.3692G>C
ENST00000634810.1:n.2293G>C
ENST00000634844.1:c.2804G>C	ENSP00000489398.1:p.Cys935Ser
ENST00000635406.1:n.294G>C
NM_000053.3:c.2948G>C	NP_000044.2:p.Cys983Ser
NM_001005918.2:c.2327G>C	NP_001005918.1:p.Cys776Ser
NM_001243182.1:c.2615G>C	NP_001230111.1:p.Cys872Ser
XM_005266423.2:c.2852G>C	XP_005266480.1:p.Cys951Ser
XM_005266424.3:c.2852G>C	XP_005266481.1:p.Cys951Ser
XM_005266427.2:c.2714G>C	XP_005266484.1:p.Cys905Ser
XM_005266428.1:c.2696G>C	XP_005266485.1:p.Cys899Ser
XM_005266430.3:c.2948G>C	XP_005266487.1:p.Cys983Ser
XM_005266431.2:c.2912G>C	XP_005266488.1:p.Cys971Ser
XM_005266432.2:c.2462G>C	XP_005266489.1:p.Cys821Ser
XM_006719837.2:c.2852G>C	XP_006719900.1:p.Cys951Ser
XM_006719838.1:c.764G>C	XP_006719901.1:p.Cys255Ser
XM_006719839.1:c.764G>C	XP_006719902.1:p.Cys255Ser
XM_011535117.1:c.2852G>C	XP_011533419.1:p.Cys951Ser
XM_011535118.1:c.2813G>C	XP_011533420.1:p.Cys938Ser
XM_011535119.1:c.2948G>C	XP_011533421.1:p.Cys983Ser
XM_011535120.1:c.2534G>C	XP_011533422.1:p.Cys845Ser
XM_011535121.1:c.2730+3611G>C	XP_011533423.1:n.2730+3611G>C
XM_011535122.1:c.1616G>C	XP_011533424.1:p.Cys539Ser
XR_941601.1:n.3167G>C
XR_941602.1:n.3167G>C
XR_941603.1:n.3167G>C
XR_941604.1:n.3167G>C
NM_001330578.1:c.2714G>C	NP_001317507.1:p.Cys905Ser
NM_001330579.1:c.2696G>C	NP_001317508.1:p.Cys899Ser
XM_005266424.4:c.2852G>C	XP_005266481.1:p.Cys951Ser
XM_005266430.4:c.2948G>C	XP_005266487.1:p.Cys983Ser
XM_005266431.4:c.2912G>C	XP_005266488.1:p.Cys971Ser
XM_006719837.3:c.2852G>C	XP_006719900.1:p.Cys951Ser
XM_011535117.3:c.2852G>C	XP_011533419.1:p.Cys951Ser
XM_017020627.1:c.2852G>C	XP_016876116.1:p.Cys951Ser
NM_000053.4:c.2948G>C MANE Select	NP_000044.2:p.Cys983Ser
NM_001005918.3:c.2327G>C	NP_001005918.1:p.Cys776Ser
NM_001330579.2:c.2696G>C	NP_001317508.1:p.Cys899Ser
NM_001243182.2:c.2615G>C	NP_001230111.1:p.Cys872Ser
NM_001330578.2:c.2714G>C	NP_001317507.1:p.Cys905Ser