Canonical Allele Identifier: CA388030752

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518420G>C (hg19) ; chr13:g.51944284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944284G>C , CM000675.2:g.51944284G>C	GRCh38
NC_000013.10:g.52518420G>C , CM000675.1:g.52518420G>C	GRCh37
NC_000013.9:g.51416421G>C	NCBI36
NG_008806.1:g.72211C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1730C>G	ENSP00000489512.2:n.*894-1730C>G
ENST00000673864.2:c.*1812C>G	ENSP00000501045.2:n.*1812C>G
ENST00000674147.2:c.2447C>G	ENSP00000500964.2:p.Thr816Ser
ENST00000242839.10:c.3068C>G MANE Select	ENSP00000242839.5:p.Thr1023Ser
ENST00000344297.9:c.2447C>G	ENSP00000342559.5:p.Thr816Ser
ENST00000400366.6:c.2735C>G	ENSP00000383217.3:p.Thr912Ser
ENST00000448424.7:c.2816C>G	ENSP00000416738.3:p.Thr939Ser
ENST00000673772.1:c.2834C>G	ENSP00000501168.1:p.Thr945Ser
ENST00000673867.1:n.3207C>G
ENST00000674126.1:n.3431C>G
ENST00000674147.1:c.2003C>G	ENSP00000500964.1:p.Thr668Ser
ENST00000242839.8:c.3068C>G	ENSP00000242839.4:p.Thr1023Ser
ENST00000344297.8:c.2447C>G	ENSP00000342559.5:p.Thr816Ser
ENST00000400366.5:c.2735C>G	ENSP00000383217.3:p.Thr912Ser
ENST00000400370.8:c.1778C>G	ENSP00000383221.3:p.Thr593Ser
ENST00000418097.7:c.2873C>G	ENSP00000393343.2:p.Thr958Ser
ENST00000448424.6:c.2834C>G	ENSP00000416738.2:p.Thr945Ser
ENST00000466629.1:n.288C>G
ENST00000634296.1:c.1022-1730C>G
ENST00000634308.1:c.*169C>G	ENSP00000489234.1:n.*169C>G
ENST00000634620.1:n.3812C>G
ENST00000634810.1:n.2413C>G
ENST00000634844.1:c.2924C>G	ENSP00000489398.1:p.Thr975Ser
ENST00000635406.1:n.414C>G
NM_000053.3:c.3068C>G	NP_000044.2:p.Thr1023Ser
NM_001005918.2:c.2447C>G	NP_001005918.1:p.Thr816Ser
NM_001243182.1:c.2735C>G	NP_001230111.1:p.Thr912Ser
XM_005266423.2:c.2972C>G	XP_005266480.1:p.Thr991Ser
XM_005266424.3:c.2972C>G	XP_005266481.1:p.Thr991Ser
XM_005266427.2:c.2834C>G	XP_005266484.1:p.Thr945Ser
XM_005266428.1:c.2816C>G	XP_005266485.1:p.Thr939Ser
XM_005266430.3:c.3068C>G	XP_005266487.1:p.Thr1023Ser
XM_005266431.2:c.3032C>G	XP_005266488.1:p.Thr1011Ser
XM_005266432.2:c.2582C>G	XP_005266489.1:p.Thr861Ser
XM_006719837.2:c.2972C>G	XP_006719900.1:p.Thr991Ser
XM_006719838.1:c.884C>G	XP_006719901.1:p.Thr295Ser
XM_006719839.1:c.877-1730C>G	XP_006719902.1:n.877-1730C>G
XM_011535117.1:c.2972C>G	XP_011533419.1:p.Thr991Ser
XM_011535118.1:c.2933C>G	XP_011533420.1:p.Thr978Ser
XM_011535119.1:c.3061-1730C>G	XP_011533421.1:n.3061-1730C>G
XM_011535120.1:c.2654C>G	XP_011533422.1:p.Thr885Ser
XM_011535121.1:c.2731-1730C>G	XP_011533423.1:n.2731-1730C>G
XM_011535122.1:c.1736C>G	XP_011533424.1:p.Thr579Ser
XR_941601.1:n.3287C>G
XR_941602.1:n.3287C>G
XR_941603.1:n.3287C>G
XR_941604.1:n.3287C>G
NM_001330578.1:c.2834C>G	NP_001317507.1:p.Thr945Ser
NM_001330579.1:c.2816C>G	NP_001317508.1:p.Thr939Ser
XM_005266424.4:c.2972C>G	XP_005266481.1:p.Thr991Ser
XM_005266430.4:c.3068C>G	XP_005266487.1:p.Thr1023Ser
XM_005266431.4:c.3032C>G	XP_005266488.1:p.Thr1011Ser
XM_006719837.3:c.2972C>G	XP_006719900.1:p.Thr991Ser
XM_011535117.3:c.2972C>G	XP_011533419.1:p.Thr991Ser
XM_017020627.1:c.2972C>G	XP_016876116.1:p.Thr991Ser
NM_000053.4:c.3068C>G MANE Select	NP_000044.2:p.Thr1023Ser
NM_001005918.3:c.2447C>G	NP_001005918.1:p.Thr816Ser
NM_001330579.2:c.2816C>G	NP_001317508.1:p.Thr939Ser
NM_001243182.2:c.2735C>G	NP_001230111.1:p.Thr912Ser
NM_001330578.2:c.2834C>G	NP_001317507.1:p.Thr945Ser