Canonical Allele Identifier: CA388033486

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52523844A>C (hg19) ; chr13:g.51949708A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949708A>C , CM000675.2:g.51949708A>C	GRCh38
NC_000013.10:g.52523844A>C , CM000675.1:g.52523844A>C	GRCh37
NC_000013.9:g.51421845A>C	NCBI36
NG_008806.1:g.66787T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*652T>G	ENSP00000489512.2:n.*652T>G
ENST00000673864.2:c.*1563T>G	ENSP00000501045.2:n.*1563T>G
ENST00000674147.2:c.2244+299T>G	ENSP00000500964.2:n.2244+299T>G
ENST00000242839.10:c.2819T>G MANE Select	ENSP00000242839.5:p.Ile940Ser
ENST00000344297.9:c.2244+299T>G	ENSP00000342559.5:n.2244+299T>G
ENST00000400366.6:c.2486T>G	ENSP00000383217.3:p.Ile829Ser
ENST00000448424.7:c.2567T>G	ENSP00000416738.3:p.Ile856Ser
ENST00000673772.1:c.2585T>G	ENSP00000501168.1:p.Ile862Ser
ENST00000674147.1:c.1800+299T>G	ENSP00000500964.1:n.1800+299T>G
ENST00000242839.8:c.2819T>G	ENSP00000242839.4:p.Ile940Ser
ENST00000344297.8:c.2244+299T>G	ENSP00000342559.5:n.2244+299T>G
ENST00000400366.5:c.2486T>G	ENSP00000383217.3:p.Ile829Ser
ENST00000400370.8:c.1529T>G	ENSP00000383221.3:p.Ile510Ser
ENST00000418097.7:c.2819T>G	ENSP00000393343.2:p.Ile940Ser
ENST00000448424.6:c.2585T>G	ENSP00000416738.2:p.Ile862Ser
ENST00000634296.1:c.780T>G
ENST00000634308.1:c.2585T>G	ENSP00000489234.1:p.Ile862Ser
ENST00000634620.1:n.3609+8T>G
ENST00000634810.1:n.2164T>G
ENST00000634844.1:c.2675T>G	ENSP00000489398.1:p.Ile892Ser
ENST00000635406.1:n.212-3230T>G
NM_000053.3:c.2819T>G	NP_000044.2:p.Ile940Ser
NM_001005918.2:c.2244+299T>G	NP_001005918.1:n.2244+299T>G
NM_001243182.1:c.2486T>G	NP_001230111.1:p.Ile829Ser
XM_005266423.2:c.2723T>G	XP_005266480.1:p.Ile908Ser
XM_005266424.3:c.2723T>G	XP_005266481.1:p.Ile908Ser
XM_005266427.2:c.2585T>G	XP_005266484.1:p.Ile862Ser
XM_005266428.1:c.2567T>G	XP_005266485.1:p.Ile856Ser
XM_005266430.3:c.2819T>G	XP_005266487.1:p.Ile940Ser
XM_005266431.2:c.2783T>G	XP_005266488.1:p.Ile928Ser
XM_005266432.2:c.2333T>G	XP_005266489.1:p.Ile778Ser
XM_006719837.2:c.2723T>G	XP_006719900.1:p.Ile908Ser
XM_006719838.1:c.635T>G	XP_006719901.1:p.Ile212Ser
XM_006719839.1:c.635T>G	XP_006719902.1:p.Ile212Ser
XM_011535117.1:c.2723T>G	XP_011533419.1:p.Ile908Ser
XM_011535118.1:c.2730+299T>G	XP_011533420.1:n.2730+299T>G
XM_011535119.1:c.2819T>G	XP_011533421.1:p.Ile940Ser
XM_011535120.1:c.2405T>G	XP_011533422.1:p.Ile802Ser
XM_011535121.1:c.2730+299T>G	XP_011533423.1:n.2730+299T>G
XM_011535122.1:c.1487T>G	XP_011533424.1:p.Ile496Ser
XR_941601.1:n.3038T>G
XR_941602.1:n.3038T>G
XR_941603.1:n.3038T>G
XR_941604.1:n.3038T>G
NM_001330578.1:c.2585T>G	NP_001317507.1:p.Ile862Ser
NM_001330579.1:c.2567T>G	NP_001317508.1:p.Ile856Ser
XM_005266424.4:c.2723T>G	XP_005266481.1:p.Ile908Ser
XM_005266430.4:c.2819T>G	XP_005266487.1:p.Ile940Ser
XM_005266431.4:c.2783T>G	XP_005266488.1:p.Ile928Ser
XM_006719837.3:c.2723T>G	XP_006719900.1:p.Ile908Ser
XM_011535117.3:c.2723T>G	XP_011533419.1:p.Ile908Ser
XM_017020627.1:c.2723T>G	XP_016876116.1:p.Ile908Ser
NM_000053.4:c.2819T>G MANE Select	NP_000044.2:p.Ile940Ser
NM_001005918.3:c.2244+299T>G	NP_001005918.1:n.2244+299T>G
NM_001330579.2:c.2567T>G	NP_001317508.1:p.Ile856Ser
NM_001243182.2:c.2486T>G	NP_001230111.1:p.Ile829Ser
NM_001330578.2:c.2585T>G	NP_001317507.1:p.Ile862Ser