Canonical Allele Identifier: CA171304

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 157941
• ClinVar RCV Id: RCV000145265
• dbSNP Id: rs587783305
• MyVariant Identifiers: chr13:g.52524200G>C (hg19) ; chr13:g.51950064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950064G>C , CM000675.2:g.51950064G>C	GRCh38
NC_000013.10:g.52524200G>C , CM000675.1:g.52524200G>C	GRCh37
NC_000013.9:g.51422201G>C	NCBI36
NG_008806.1:g.66431C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*506C>G	ENSP00000489512.2:n.*506C>G
ENST00000673864.2:c.*1417C>G	ENSP00000501045.2:n.*1417C>G
ENST00000674147.2:c.2187C>G	ENSP00000500964.2:p.Gly729=
ENST00000242839.10:c.2673C>G MANE Select	ENSP00000242839.5:p.Gly891=
ENST00000344297.9:c.2187C>G	ENSP00000342559.5:p.Gly729=
ENST00000400366.6:c.2340C>G	ENSP00000383217.3:p.Gly780=
ENST00000448424.7:c.2421C>G	ENSP00000416738.3:p.Gly807=
ENST00000673772.1:c.2439C>G	ENSP00000501168.1:p.Gly813=
ENST00000674147.1:c.1743C>G	ENSP00000500964.1:p.Gly581=
ENST00000242839.8:c.2673C>G	ENSP00000242839.4:p.Gly891=
ENST00000344297.8:c.2187C>G	ENSP00000342559.5:p.Gly729=
ENST00000400366.5:c.2340C>G	ENSP00000383217.3:p.Gly780=
ENST00000400370.8:c.1383C>G	ENSP00000383221.3:p.Gly461=
ENST00000418097.7:c.2673C>G	ENSP00000393343.2:p.Gly891=
ENST00000448424.6:c.2439C>G	ENSP00000416738.2:p.Gly813=
ENST00000634296.1:c.634C>G
ENST00000634308.1:c.2439C>G	ENSP00000489234.1:p.Gly813=
ENST00000634620.1:n.3471C>G
ENST00000634810.1:n.2018C>G
ENST00000634844.1:c.2529C>G	ENSP00000489398.1:p.Gly843=
ENST00000635406.1:n.212-3586C>G
NM_000053.3:c.2673C>G	NP_000044.2:p.Gly891=
NM_001005918.2:c.2187C>G	NP_001005918.1:p.Gly729=
NM_001243182.1:c.2340C>G	NP_001230111.1:p.Gly780=
XM_005266423.2:c.2577C>G	XP_005266480.1:p.Gly859=
XM_005266424.3:c.2577C>G	XP_005266481.1:p.Gly859=
XM_005266427.2:c.2439C>G	XP_005266484.1:p.Gly813=
XM_005266428.1:c.2421C>G	XP_005266485.1:p.Gly807=
XM_005266430.3:c.2673C>G	XP_005266487.1:p.Gly891=
XM_005266431.2:c.2637C>G	XP_005266488.1:p.Gly879=
XM_005266432.2:c.2187C>G	XP_005266489.1:p.Gly729=
XM_006719837.2:c.2577C>G	XP_006719900.1:p.Gly859=
XM_006719838.1:c.489C>G	XP_006719901.1:p.Gly163=
XM_006719839.1:c.489C>G	XP_006719902.1:p.Gly163=
XM_011535117.1:c.2577C>G	XP_011533419.1:p.Gly859=
XM_011535118.1:c.2673C>G	XP_011533420.1:p.Gly891=
XM_011535119.1:c.2673C>G	XP_011533421.1:p.Gly891=
XM_011535120.1:c.2259C>G	XP_011533422.1:p.Gly753=
XM_011535121.1:c.2673C>G	XP_011533423.1:p.Gly891=
XM_011535122.1:c.1341C>G	XP_011533424.1:p.Gly447=
XR_941601.1:n.2892C>G
XR_941602.1:n.2892C>G
XR_941603.1:n.2892C>G
XR_941604.1:n.2892C>G
NM_001330578.1:c.2439C>G	NP_001317507.1:p.Gly813=
NM_001330579.1:c.2421C>G	NP_001317508.1:p.Gly807=
XM_005266424.4:c.2577C>G	XP_005266481.1:p.Gly859=
XM_005266430.4:c.2673C>G	XP_005266487.1:p.Gly891=
XM_005266431.4:c.2637C>G	XP_005266488.1:p.Gly879=
XM_006719837.3:c.2577C>G	XP_006719900.1:p.Gly859=
XM_011535117.3:c.2577C>G	XP_011533419.1:p.Gly859=
XM_017020627.1:c.2577C>G	XP_016876116.1:p.Gly859=
NM_000053.4:c.2673C>G MANE Select	NP_000044.2:p.Gly891=
NM_001005918.3:c.2187C>G	NP_001005918.1:p.Gly729=
NM_001330579.2:c.2421C>G	NP_001317508.1:p.Gly807=
NM_001243182.2:c.2340C>G	NP_001230111.1:p.Gly780=
NM_001330578.2:c.2439C>G	NP_001317507.1:p.Gly813=