Canonical Allele Identifier: CA388016632

Gene: ATP7B

Linked Data

• dbSNP Id: rs1593697228
• MyVariant Identifiers: chr13:g.52524494A>C (hg19) ; chr13:g.51950358A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950358A>C , CM000675.2:g.51950358A>C	GRCh38
NC_000013.10:g.52524494A>C , CM000675.1:g.52524494A>C	GRCh37
NC_000013.9:g.51422495A>C	NCBI36
NG_008806.1:g.66137T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*322T>G	ENSP00000489512.2:n.*322T>G
ENST00000673864.2:c.*1233T>G	ENSP00000501045.2:n.*1233T>G
ENST00000674147.2:c.2003T>G	ENSP00000500964.2:p.Ile668Ser
ENST00000242839.10:c.2489T>G MANE Select	ENSP00000242839.5:p.Ile830Ser
ENST00000344297.9:c.2003T>G	ENSP00000342559.5:p.Ile668Ser
ENST00000400366.6:c.2156T>G	ENSP00000383217.3:p.Ile719Ser
ENST00000448424.7:c.2237T>G	ENSP00000416738.3:p.Ile746Ser
ENST00000673772.1:c.2255T>G	ENSP00000501168.1:p.Ile752Ser
ENST00000674147.1:c.1559T>G	ENSP00000500964.1:p.Ile520Ser
ENST00000242839.8:c.2489T>G	ENSP00000242839.4:p.Ile830Ser
ENST00000344297.8:c.2003T>G	ENSP00000342559.5:p.Ile668Ser
ENST00000400366.5:c.2156T>G	ENSP00000383217.3:p.Ile719Ser
ENST00000400370.8:c.1286-197T>G	ENSP00000383221.3:n.1286-197T>G
ENST00000418097.7:c.2489T>G	ENSP00000393343.2:p.Ile830Ser
ENST00000448424.6:c.2255T>G	ENSP00000416738.2:p.Ile752Ser
ENST00000634296.1:c.450T>G
ENST00000634308.1:c.2255T>G	ENSP00000489234.1:p.Ile752Ser
ENST00000634620.1:n.3287T>G
ENST00000634810.1:n.1834T>G
ENST00000634844.1:c.2345T>G	ENSP00000489398.1:p.Ile782Ser
ENST00000635406.1:n.212-3880T>G
NM_000053.3:c.2489T>G	NP_000044.2:p.Ile830Ser
NM_001005918.2:c.2003T>G	NP_001005918.1:p.Ile668Ser
NM_001243182.1:c.2156T>G	NP_001230111.1:p.Ile719Ser
XM_005266423.2:c.2393T>G	XP_005266480.1:p.Ile798Ser
XM_005266424.3:c.2393T>G	XP_005266481.1:p.Ile798Ser
XM_005266427.2:c.2255T>G	XP_005266484.1:p.Ile752Ser
XM_005266428.1:c.2237T>G	XP_005266485.1:p.Ile746Ser
XM_005266430.3:c.2489T>G	XP_005266487.1:p.Ile830Ser
XM_005266431.2:c.2453T>G	XP_005266488.1:p.Ile818Ser
XM_005266432.2:c.2003T>G	XP_005266489.1:p.Ile668Ser
XM_006719837.2:c.2393T>G	XP_006719900.1:p.Ile798Ser
XM_006719838.1:c.305T>G	XP_006719901.1:p.Ile102Ser
XM_006719839.1:c.305T>G	XP_006719902.1:p.Ile102Ser
XM_011535117.1:c.2393T>G	XP_011533419.1:p.Ile798Ser
XM_011535118.1:c.2489T>G	XP_011533420.1:p.Ile830Ser
XM_011535119.1:c.2489T>G	XP_011533421.1:p.Ile830Ser
XM_011535120.1:c.2075T>G	XP_011533422.1:p.Ile692Ser
XM_011535121.1:c.2489T>G	XP_011533423.1:p.Ile830Ser
XM_011535122.1:c.1157T>G	XP_011533424.1:p.Ile386Ser
XR_941601.1:n.2708T>G
XR_941602.1:n.2708T>G
XR_941603.1:n.2708T>G
XR_941604.1:n.2708T>G
NM_001330578.1:c.2255T>G	NP_001317507.1:p.Ile752Ser
NM_001330579.1:c.2237T>G	NP_001317508.1:p.Ile746Ser
XM_005266424.4:c.2393T>G	XP_005266481.1:p.Ile798Ser
XM_005266430.4:c.2489T>G	XP_005266487.1:p.Ile830Ser
XM_005266431.4:c.2453T>G	XP_005266488.1:p.Ile818Ser
XM_006719837.3:c.2393T>G	XP_006719900.1:p.Ile798Ser
XM_011535117.3:c.2393T>G	XP_011533419.1:p.Ile798Ser
XM_017020627.1:c.2393T>G	XP_016876116.1:p.Ile798Ser
NM_000053.4:c.2489T>G MANE Select	NP_000044.2:p.Ile830Ser
NM_001005918.3:c.2003T>G	NP_001005918.1:p.Ile668Ser
NM_001330579.2:c.2237T>G	NP_001317508.1:p.Ile746Ser
NM_001243182.2:c.2156T>G	NP_001230111.1:p.Ile719Ser
NM_001330578.2:c.2255T>G	NP_001317507.1:p.Ile752Ser