Canonical Allele Identifier: CA6988531

Gene: ATP7B

Linked Data

• dbSNP Id: rs780346618
• ExAC: 13:52511484 T / C
• gnomAD v2: 13-52511484-T-C
• gnomAD v4: 13-51937348-T-C
• MyVariant Identifiers: chr13:g.52511484T>C (hg19) ; chr13:g.51937348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937348T>C , CM000675.2:g.51937348T>C	GRCh38
NC_000013.10:g.52511484T>C , CM000675.1:g.52511484T>C	GRCh37
NC_000013.9:g.51409485T>C	NCBI36
NG_008806.1:g.79147A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1599A>G	ENSP00000489512.2:n.*1599A>G
ENST00000673864.2:c.*2693A>G	ENSP00000501045.2:n.*2693A>G
ENST00000674147.2:c.3328A>G	ENSP00000500964.2:p.Thr1110Ala
ENST00000242839.10:c.3949A>G MANE Select	ENSP00000242839.5:p.Thr1317Ala
ENST00000344297.9:c.3328A>G	ENSP00000342559.5:p.Thr1110Ala
ENST00000400366.6:c.3616A>G	ENSP00000383217.3:p.Thr1206Ala
ENST00000448424.7:c.3697A>G	ENSP00000416738.3:p.Thr1233Ala
ENST00000673696.1:n.1272A>G
ENST00000673772.1:c.3715A>G	ENSP00000501168.1:p.Thr1239Ala
ENST00000673867.1:n.4088A>G
ENST00000673923.1:n.815A>G
ENST00000674147.1:c.2884A>G	ENSP00000500964.1:p.Thr962Ala
ENST00000242839.8:c.3949A>G	ENSP00000242839.4:p.Thr1317Ala
ENST00000344297.8:c.3328A>G	ENSP00000342559.5:p.Thr1110Ala
ENST00000400366.5:c.3616A>G	ENSP00000383217.3:p.Thr1206Ala
ENST00000400370.8:c.2659A>G	ENSP00000383221.3:p.Thr887Ala
ENST00000418097.7:c.3754A>G	ENSP00000393343.2:p.Thr1252Ala
ENST00000448424.6:c.3715A>G	ENSP00000416738.2:p.Thr1239Ala
ENST00000634296.1:c.1727A>G
ENST00000634308.1:c.*1050A>G	ENSP00000489234.1:n.*1050A>G
ENST00000634620.1:n.4693A>G
ENST00000634810.1:n.3294A>G
ENST00000634844.1:c.3805A>G	ENSP00000489398.1:p.Thr1269Ala
NM_000053.3:c.3949A>G	NP_000044.2:p.Thr1317Ala
NM_001005918.2:c.3328A>G	NP_001005918.1:p.Thr1110Ala
NM_001243182.1:c.3616A>G	NP_001230111.1:p.Thr1206Ala
XM_005266423.2:c.3853A>G	XP_005266480.1:p.Thr1285Ala
XM_005266424.3:c.3853A>G	XP_005266481.1:p.Thr1285Ala
XM_005266427.2:c.3715A>G	XP_005266484.1:p.Thr1239Ala
XM_005266428.1:c.3697A>G	XP_005266485.1:p.Thr1233Ala
XM_005266430.3:c.3949A>G	XP_005266487.1:p.Thr1317Ala
XM_005266431.2:c.3913A>G	XP_005266488.1:p.Thr1305Ala
XM_005266432.2:c.3463A>G	XP_005266489.1:p.Thr1155Ala
XM_006719837.2:c.3853A>G	XP_006719900.1:p.Thr1285Ala
XM_006719838.1:c.1765A>G	XP_006719901.1:p.Thr589Ala
XM_006719839.1:c.1582A>G	XP_006719902.1:p.Thr528Ala
XM_011535117.1:c.3853A>G	XP_011533419.1:p.Thr1285Ala
XM_011535118.1:c.3814A>G	XP_011533420.1:p.Thr1272Ala
XM_011535119.1:c.3766A>G	XP_011533421.1:p.Thr1256Ala
XM_011535120.1:c.3535A>G	XP_011533422.1:p.Thr1179Ala
XM_011535121.1:c.3436A>G	XP_011533423.1:p.Thr1146Ala
XM_011535122.1:c.2617A>G	XP_011533424.1:p.Thr873Ala
XR_941601.1:n.4168A>G
XR_941602.1:n.4168A>G
XR_941603.1:n.4168A>G
XR_941604.1:n.4168A>G
NM_001330578.1:c.3715A>G	NP_001317507.1:p.Thr1239Ala
NM_001330579.1:c.3697A>G	NP_001317508.1:p.Thr1233Ala
XM_005266424.4:c.3853A>G	XP_005266481.1:p.Thr1285Ala
XM_005266430.4:c.3949A>G	XP_005266487.1:p.Thr1317Ala
XM_005266431.4:c.3913A>G	XP_005266488.1:p.Thr1305Ala
XM_006719837.3:c.3853A>G	XP_006719900.1:p.Thr1285Ala
XM_011535117.3:c.3853A>G	XP_011533419.1:p.Thr1285Ala
XM_017020627.1:c.3853A>G	XP_016876116.1:p.Thr1285Ala
NM_000053.4:c.3949A>G MANE Select	NP_000044.2:p.Thr1317Ala
NM_001005918.3:c.3328A>G	NP_001005918.1:p.Thr1110Ala
NM_001330579.2:c.3697A>G	NP_001317508.1:p.Thr1233Ala
NM_001243182.2:c.3616A>G	NP_001230111.1:p.Thr1206Ala
NM_001330578.2:c.3715A>G	NP_001317507.1:p.Thr1239Ala