Canonical Allele Identifier: CA388031744

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520425G>C (hg19) ; chr13:g.51946289G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946289G>C , CM000675.2:g.51946289G>C	GRCh38
NC_000013.10:g.52520425G>C , CM000675.1:g.52520425G>C	GRCh37
NC_000013.9:g.51418426G>C	NCBI36
NG_008806.1:g.70206C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*888C>G	ENSP00000489512.2:n.*888C>G
ENST00000673864.2:c.*1799C>G	ENSP00000501045.2:n.*1799C>G
ENST00000674147.2:c.2434C>G	ENSP00000500964.2:p.His812Asp
ENST00000242839.10:c.3055C>G MANE Select	ENSP00000242839.5:p.His1019Asp
ENST00000344297.9:c.2434C>G	ENSP00000342559.5:p.His812Asp
ENST00000400366.6:c.2722C>G	ENSP00000383217.3:p.His908Asp
ENST00000448424.7:c.2803C>G	ENSP00000416738.3:p.His935Asp
ENST00000673772.1:c.2821C>G	ENSP00000501168.1:p.His941Asp
ENST00000673867.1:n.1202C>G
ENST00000674126.1:n.3418C>G
ENST00000674147.1:c.1990C>G	ENSP00000500964.1:p.His664Asp
ENST00000242839.8:c.3055C>G	ENSP00000242839.4:p.His1019Asp
ENST00000344297.8:c.2434C>G	ENSP00000342559.5:p.His812Asp
ENST00000400366.5:c.2722C>G	ENSP00000383217.3:p.His908Asp
ENST00000400370.8:c.1765C>G	ENSP00000383221.3:p.His589Asp
ENST00000418097.7:c.2866-1998C>G	ENSP00000393343.2:n.2866-1998C>G
ENST00000448424.6:c.2821C>G	ENSP00000416738.2:p.His941Asp
ENST00000466629.1:n.275C>G
ENST00000634296.1:c.1016C>G
ENST00000634308.1:c.*156C>G	ENSP00000489234.1:n.*156C>G
ENST00000634620.1:n.3799C>G
ENST00000634810.1:n.2400C>G
ENST00000634844.1:c.2911C>G	ENSP00000489398.1:p.His971Asp
ENST00000635406.1:n.401C>G
NM_000053.3:c.3055C>G	NP_000044.2:p.His1019Asp
NM_001005918.2:c.2434C>G	NP_001005918.1:p.His812Asp
NM_001243182.1:c.2722C>G	NP_001230111.1:p.His908Asp
XM_005266423.2:c.2959C>G	XP_005266480.1:p.His987Asp
XM_005266424.3:c.2959C>G	XP_005266481.1:p.His987Asp
XM_005266427.2:c.2821C>G	XP_005266484.1:p.His941Asp
XM_005266428.1:c.2803C>G	XP_005266485.1:p.His935Asp
XM_005266430.3:c.3055C>G	XP_005266487.1:p.His1019Asp
XM_005266431.2:c.3019C>G	XP_005266488.1:p.His1007Asp
XM_005266432.2:c.2569C>G	XP_005266489.1:p.His857Asp
XM_006719837.2:c.2959C>G	XP_006719900.1:p.His987Asp
XM_006719838.1:c.871C>G	XP_006719901.1:p.His291Asp
XM_006719839.1:c.871C>G	XP_006719902.1:p.His291Asp
XM_011535117.1:c.2959C>G	XP_011533419.1:p.His987Asp
XM_011535118.1:c.2920C>G	XP_011533420.1:p.His974Asp
XM_011535119.1:c.3055C>G	XP_011533421.1:p.His1019Asp
XM_011535120.1:c.2641C>G	XP_011533422.1:p.His881Asp
XM_011535121.1:c.2730+3718C>G	XP_011533423.1:n.2730+3718C>G
XM_011535122.1:c.1723C>G	XP_011533424.1:p.His575Asp
XR_941601.1:n.3274C>G
XR_941602.1:n.3274C>G
XR_941603.1:n.3274C>G
XR_941604.1:n.3274C>G
NM_001330578.1:c.2821C>G	NP_001317507.1:p.His941Asp
NM_001330579.1:c.2803C>G	NP_001317508.1:p.His935Asp
XM_005266424.4:c.2959C>G	XP_005266481.1:p.His987Asp
XM_005266430.4:c.3055C>G	XP_005266487.1:p.His1019Asp
XM_005266431.4:c.3019C>G	XP_005266488.1:p.His1007Asp
XM_006719837.3:c.2959C>G	XP_006719900.1:p.His987Asp
XM_011535117.3:c.2959C>G	XP_011533419.1:p.His987Asp
XM_017020627.1:c.2959C>G	XP_016876116.1:p.His987Asp
NM_000053.4:c.3055C>G MANE Select	NP_000044.2:p.His1019Asp
NM_001005918.3:c.2434C>G	NP_001005918.1:p.His812Asp
NM_001330579.2:c.2803C>G	NP_001317508.1:p.His935Asp
NM_001243182.2:c.2722C>G	NP_001230111.1:p.His908Asp
NM_001330578.2:c.2821C>G	NP_001317507.1:p.His941Asp