Canonical Allele Identifier: CA388016636

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51950358-A-G
• MyVariant Identifiers: chr13:g.52524494A>G (hg19) ; chr13:g.51950358A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*322T>C	ENSP00000489512.2:n.*322T>C
ENST00000673864.2:c.*1233T>C	ENSP00000501045.2:n.*1233T>C
ENST00000674147.2:c.2003T>C	ENSP00000500964.2:p.Ile668Thr
ENST00000242839.10:c.2489T>C MANE Select	ENSP00000242839.5:p.Ile830Thr
ENST00000344297.9:c.2003T>C	ENSP00000342559.5:p.Ile668Thr
ENST00000400366.6:c.2156T>C	ENSP00000383217.3:p.Ile719Thr
ENST00000448424.7:c.2237T>C	ENSP00000416738.3:p.Ile746Thr
ENST00000673772.1:c.2255T>C	ENSP00000501168.1:p.Ile752Thr
ENST00000674147.1:c.1559T>C	ENSP00000500964.1:p.Ile520Thr
ENST00000242839.8:c.2489T>C	ENSP00000242839.4:p.Ile830Thr
ENST00000344297.8:c.2003T>C	ENSP00000342559.5:p.Ile668Thr
ENST00000400366.5:c.2156T>C	ENSP00000383217.3:p.Ile719Thr
ENST00000400370.8:c.1286-197T>C	ENSP00000383221.3:n.1286-197T>C
ENST00000418097.7:c.2489T>C	ENSP00000393343.2:p.Ile830Thr
ENST00000448424.6:c.2255T>C	ENSP00000416738.2:p.Ile752Thr
ENST00000634296.1:c.450T>C
ENST00000634308.1:c.2255T>C	ENSP00000489234.1:p.Ile752Thr
ENST00000634620.1:n.3287T>C
ENST00000634810.1:n.1834T>C
ENST00000634844.1:c.2345T>C	ENSP00000489398.1:p.Ile782Thr
ENST00000635406.1:n.212-3880T>C
NM_000053.3:c.2489T>C	NP_000044.2:p.Ile830Thr
NM_001005918.2:c.2003T>C	NP_001005918.1:p.Ile668Thr
NM_001243182.1:c.2156T>C	NP_001230111.1:p.Ile719Thr
XM_005266423.2:c.2393T>C	XP_005266480.1:p.Ile798Thr
XM_005266424.3:c.2393T>C	XP_005266481.1:p.Ile798Thr
XM_005266427.2:c.2255T>C	XP_005266484.1:p.Ile752Thr
XM_005266428.1:c.2237T>C	XP_005266485.1:p.Ile746Thr
XM_005266430.3:c.2489T>C	XP_005266487.1:p.Ile830Thr
XM_005266431.2:c.2453T>C	XP_005266488.1:p.Ile818Thr
XM_005266432.2:c.2003T>C	XP_005266489.1:p.Ile668Thr
XM_006719837.2:c.2393T>C	XP_006719900.1:p.Ile798Thr
XM_006719838.1:c.305T>C	XP_006719901.1:p.Ile102Thr
XM_006719839.1:c.305T>C	XP_006719902.1:p.Ile102Thr
XM_011535117.1:c.2393T>C	XP_011533419.1:p.Ile798Thr
XM_011535118.1:c.2489T>C	XP_011533420.1:p.Ile830Thr
XM_011535119.1:c.2489T>C	XP_011533421.1:p.Ile830Thr
XM_011535120.1:c.2075T>C	XP_011533422.1:p.Ile692Thr
XM_011535121.1:c.2489T>C	XP_011533423.1:p.Ile830Thr
XM_011535122.1:c.1157T>C	XP_011533424.1:p.Ile386Thr
XR_941601.1:n.2708T>C
XR_941602.1:n.2708T>C
XR_941603.1:n.2708T>C
XR_941604.1:n.2708T>C
NM_001330578.1:c.2255T>C	NP_001317507.1:p.Ile752Thr
NM_001330579.1:c.2237T>C	NP_001317508.1:p.Ile746Thr
XM_005266424.4:c.2393T>C	XP_005266481.1:p.Ile798Thr
XM_005266430.4:c.2489T>C	XP_005266487.1:p.Ile830Thr
XM_005266431.4:c.2453T>C	XP_005266488.1:p.Ile818Thr
XM_006719837.3:c.2393T>C	XP_006719900.1:p.Ile798Thr
XM_011535117.3:c.2393T>C	XP_011533419.1:p.Ile798Thr
XM_017020627.1:c.2393T>C	XP_016876116.1:p.Ile798Thr
NM_000053.4:c.2489T>C MANE Select	NP_000044.2:p.Ile830Thr
NM_001005918.3:c.2003T>C	NP_001005918.1:p.Ile668Thr
NM_001330579.2:c.2237T>C	NP_001317508.1:p.Ile746Thr
NM_001243182.2:c.2156T>C	NP_001230111.1:p.Ile719Thr
NM_001330578.2:c.2255T>C	NP_001317507.1:p.Ile752Thr