Canonical Allele Identifier: CA388032277

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1708015
• ClinVar RCV Id: RCV002287176
• MyVariant Identifiers: chr13:g.52520523G>C (hg19) ; chr13:g.51946387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946387G>C , CM000675.2:g.51946387G>C	GRCh38
NC_000013.10:g.52520523G>C , CM000675.1:g.52520523G>C	GRCh37
NC_000013.9:g.51418524G>C	NCBI36
NG_008806.1:g.70108C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*790C>G	ENSP00000489512.2:n.*790C>G
ENST00000673864.2:c.*1701C>G	ENSP00000501045.2:n.*1701C>G
ENST00000674147.2:c.2336C>G	ENSP00000500964.2:p.Ser779Cys
ENST00000242839.10:c.2957C>G MANE Select	ENSP00000242839.5:p.Ser986Cys
ENST00000344297.9:c.2336C>G	ENSP00000342559.5:p.Ser779Cys
ENST00000400366.6:c.2624C>G	ENSP00000383217.3:p.Ser875Cys
ENST00000448424.7:c.2705C>G	ENSP00000416738.3:p.Ser902Cys
ENST00000673772.1:c.2723C>G	ENSP00000501168.1:p.Ser908Cys
ENST00000673867.1:n.1104C>G
ENST00000674126.1:n.3320C>G
ENST00000674147.1:c.1892C>G	ENSP00000500964.1:p.Ser631Cys
ENST00000242839.8:c.2957C>G	ENSP00000242839.4:p.Ser986Cys
ENST00000344297.8:c.2336C>G	ENSP00000342559.5:p.Ser779Cys
ENST00000400366.5:c.2624C>G	ENSP00000383217.3:p.Ser875Cys
ENST00000400370.8:c.1667C>G	ENSP00000383221.3:p.Ser556Cys
ENST00000418097.7:c.2866-2096C>G	ENSP00000393343.2:n.2866-2096C>G
ENST00000448424.6:c.2723C>G	ENSP00000416738.2:p.Ser908Cys
ENST00000466629.1:n.177C>G
ENST00000634296.1:c.918C>G
ENST00000634308.1:c.*58C>G	ENSP00000489234.1:n.*58C>G
ENST00000634620.1:n.3701C>G
ENST00000634810.1:n.2302C>G
ENST00000634844.1:c.2813C>G	ENSP00000489398.1:p.Ser938Cys
ENST00000635406.1:n.303C>G
NM_000053.3:c.2957C>G	NP_000044.2:p.Ser986Cys
NM_001005918.2:c.2336C>G	NP_001005918.1:p.Ser779Cys
NM_001243182.1:c.2624C>G	NP_001230111.1:p.Ser875Cys
XM_005266423.2:c.2861C>G	XP_005266480.1:p.Ser954Cys
XM_005266424.3:c.2861C>G	XP_005266481.1:p.Ser954Cys
XM_005266427.2:c.2723C>G	XP_005266484.1:p.Ser908Cys
XM_005266428.1:c.2705C>G	XP_005266485.1:p.Ser902Cys
XM_005266430.3:c.2957C>G	XP_005266487.1:p.Ser986Cys
XM_005266431.2:c.2921C>G	XP_005266488.1:p.Ser974Cys
XM_005266432.2:c.2471C>G	XP_005266489.1:p.Ser824Cys
XM_006719837.2:c.2861C>G	XP_006719900.1:p.Ser954Cys
XM_006719838.1:c.773C>G	XP_006719901.1:p.Ser258Cys
XM_006719839.1:c.773C>G	XP_006719902.1:p.Ser258Cys
XM_011535117.1:c.2861C>G	XP_011533419.1:p.Ser954Cys
XM_011535118.1:c.2822C>G	XP_011533420.1:p.Ser941Cys
XM_011535119.1:c.2957C>G	XP_011533421.1:p.Ser986Cys
XM_011535120.1:c.2543C>G	XP_011533422.1:p.Ser848Cys
XM_011535121.1:c.2730+3620C>G	XP_011533423.1:n.2730+3620C>G
XM_011535122.1:c.1625C>G	XP_011533424.1:p.Ser542Cys
XR_941601.1:n.3176C>G
XR_941602.1:n.3176C>G
XR_941603.1:n.3176C>G
XR_941604.1:n.3176C>G
NM_001330578.1:c.2723C>G	NP_001317507.1:p.Ser908Cys
NM_001330579.1:c.2705C>G	NP_001317508.1:p.Ser902Cys
XM_005266424.4:c.2861C>G	XP_005266481.1:p.Ser954Cys
XM_005266430.4:c.2957C>G	XP_005266487.1:p.Ser986Cys
XM_005266431.4:c.2921C>G	XP_005266488.1:p.Ser974Cys
XM_006719837.3:c.2861C>G	XP_006719900.1:p.Ser954Cys
XM_011535117.3:c.2861C>G	XP_011533419.1:p.Ser954Cys
XM_017020627.1:c.2861C>G	XP_016876116.1:p.Ser954Cys
NM_000053.4:c.2957C>G MANE Select	NP_000044.2:p.Ser986Cys
NM_001005918.3:c.2336C>G	NP_001005918.1:p.Ser779Cys
NM_001330579.2:c.2705C>G	NP_001317508.1:p.Ser902Cys
NM_001243182.2:c.2624C>G	NP_001230111.1:p.Ser875Cys
NM_001330578.2:c.2723C>G	NP_001317507.1:p.Ser908Cys