Canonical Allele Identifier: CA271178

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 157956
• ClinVar RCV Id: RCV003895025
• dbSNP Id: rs587783318
• ExAC: 13:52509814 C / T
• gnomAD v2: 13-52509814-C-T
• gnomAD v3: 13-51935678-C-T
• gnomAD v4: 13-51935678-C-T
• MyVariant Identifiers: chr13:g.52509814C>T (hg19) ; chr13:g.51935678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935678C>T , CM000675.2:g.51935678C>T	GRCh38
NC_000013.10:g.52509814C>T , CM000675.1:g.52509814C>T	GRCh37
NC_000013.9:g.51407815C>T	NCBI36
NG_008806.1:g.80817G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1689G>A	ENSP00000489512.2:n.*1689G>A
ENST00000673864.2:c.*2783G>A	ENSP00000501045.2:n.*2783G>A
ENST00000674147.2:c.3418G>A	ENSP00000500964.2:p.Gly1140Ser
ENST00000242839.10:c.4039G>A MANE Select	ENSP00000242839.5:p.Gly1347Ser
ENST00000344297.9:c.3418G>A	ENSP00000342559.5:p.Gly1140Ser
ENST00000400366.6:c.3706G>A	ENSP00000383217.3:p.Gly1236Ser
ENST00000448424.7:c.3787G>A	ENSP00000416738.3:p.Gly1263Ser
ENST00000673696.1:n.1362G>A
ENST00000673772.1:c.3805G>A	ENSP00000501168.1:p.Gly1269Ser
ENST00000673867.1:n.4178G>A
ENST00000673923.1:n.905G>A
ENST00000674147.1:c.2974G>A	ENSP00000500964.1:p.Gly992Ser
ENST00000242839.8:c.4039G>A	ENSP00000242839.4:p.Gly1347Ser
ENST00000344297.8:c.3418G>A	ENSP00000342559.5:p.Gly1140Ser
ENST00000400366.5:c.3706G>A	ENSP00000383217.3:p.Gly1236Ser
ENST00000400370.8:c.2749G>A	ENSP00000383221.3:p.Gly917Ser
ENST00000418097.7:c.3844G>A	ENSP00000393343.2:p.Gly1282Ser
ENST00000448424.6:c.3805G>A	ENSP00000416738.2:p.Gly1269Ser
ENST00000634296.1:c.1817G>A
ENST00000634308.1:c.*1140G>A	ENSP00000489234.1:n.*1140G>A
ENST00000634620.1:n.4783G>A
ENST00000634810.1:n.3384G>A
ENST00000634844.1:c.3895G>A	ENSP00000489398.1:p.Gly1299Ser
NM_000053.3:c.4039G>A	NP_000044.2:p.Gly1347Ser
NM_001005918.2:c.3418G>A	NP_001005918.1:p.Gly1140Ser
NM_001243182.1:c.3706G>A	NP_001230111.1:p.Gly1236Ser
XM_005266423.2:c.3943G>A	XP_005266480.1:p.Gly1315Ser
XM_005266424.3:c.3943G>A	XP_005266481.1:p.Gly1315Ser
XM_005266427.2:c.3805G>A	XP_005266484.1:p.Gly1269Ser
XM_005266428.1:c.3787G>A	XP_005266485.1:p.Gly1263Ser
XM_005266430.3:c.4039G>A	XP_005266487.1:p.Gly1347Ser
XM_005266431.2:c.4003G>A	XP_005266488.1:p.Gly1335Ser
XM_005266432.2:c.3553G>A	XP_005266489.1:p.Gly1185Ser
XM_006719837.2:c.3943G>A	XP_006719900.1:p.Gly1315Ser
XM_006719838.1:c.1855G>A	XP_006719901.1:p.Gly619Ser
XM_006719839.1:c.1672G>A	XP_006719902.1:p.Gly558Ser
XM_011535117.1:c.3943G>A	XP_011533419.1:p.Gly1315Ser
XM_011535118.1:c.3904G>A	XP_011533420.1:p.Gly1302Ser
XM_011535119.1:c.3856G>A	XP_011533421.1:p.Gly1286Ser
XM_011535120.1:c.3625G>A	XP_011533422.1:p.Gly1209Ser
XM_011535121.1:c.3526G>A	XP_011533423.1:p.Gly1176Ser
XM_011535122.1:c.2707G>A	XP_011533424.1:p.Gly903Ser
XR_941601.1:n.4258G>A
XR_941602.1:n.4258G>A
XR_941603.1:n.4258G>A
XR_941604.1:n.4258G>A
NM_001330578.1:c.3805G>A	NP_001317507.1:p.Gly1269Ser
NM_001330579.1:c.3787G>A	NP_001317508.1:p.Gly1263Ser
XM_005266424.4:c.3943G>A	XP_005266481.1:p.Gly1315Ser
XM_005266430.4:c.4039G>A	XP_005266487.1:p.Gly1347Ser
XM_005266431.4:c.4003G>A	XP_005266488.1:p.Gly1335Ser
XM_006719837.3:c.3943G>A	XP_006719900.1:p.Gly1315Ser
XM_011535117.3:c.3943G>A	XP_011533419.1:p.Gly1315Ser
XM_017020627.1:c.3943G>A	XP_016876116.1:p.Gly1315Ser
NM_000053.4:c.4039G>A MANE Select	NP_000044.2:p.Gly1347Ser
NM_001005918.3:c.3418G>A	NP_001005918.1:p.Gly1140Ser
NM_001330579.2:c.3787G>A	NP_001317508.1:p.Gly1263Ser
NM_001243182.2:c.3706G>A	NP_001230111.1:p.Gly1236Ser
NM_001330578.2:c.3805G>A	NP_001317507.1:p.Gly1269Ser