Canonical Allele Identifier: CA388032404

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520560T>A (hg19) ; chr13:g.51946424T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946424T>A , CM000675.2:g.51946424T>A	GRCh38
NC_000013.10:g.52520560T>A , CM000675.1:g.52520560T>A	GRCh37
NC_000013.9:g.51418561T>A	NCBI36
NG_008806.1:g.70071A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*753A>T	ENSP00000489512.2:n.*753A>T
ENST00000673864.2:c.*1664A>T	ENSP00000501045.2:n.*1664A>T
ENST00000674147.2:c.2299A>T	ENSP00000500964.2:p.Thr767Ser
ENST00000242839.10:c.2920A>T MANE Select	ENSP00000242839.5:p.Thr974Ser
ENST00000344297.9:c.2299A>T	ENSP00000342559.5:p.Thr767Ser
ENST00000400366.6:c.2587A>T	ENSP00000383217.3:p.Thr863Ser
ENST00000448424.7:c.2668A>T	ENSP00000416738.3:p.Thr890Ser
ENST00000673772.1:c.2686A>T	ENSP00000501168.1:p.Thr896Ser
ENST00000673867.1:n.1067A>T
ENST00000674126.1:n.3283A>T
ENST00000674147.1:c.1855A>T	ENSP00000500964.1:p.Thr619Ser
ENST00000242839.8:c.2920A>T	ENSP00000242839.4:p.Thr974Ser
ENST00000344297.8:c.2299A>T	ENSP00000342559.5:p.Thr767Ser
ENST00000400366.5:c.2587A>T	ENSP00000383217.3:p.Thr863Ser
ENST00000400370.8:c.1630A>T	ENSP00000383221.3:p.Thr544Ser
ENST00000418097.7:c.2866-2133A>T	ENSP00000393343.2:n.2866-2133A>T
ENST00000448424.6:c.2686A>T	ENSP00000416738.2:p.Thr896Ser
ENST00000466629.1:n.140A>T
ENST00000634296.1:c.881A>T
ENST00000634308.1:c.*21A>T	ENSP00000489234.1:n.*21A>T
ENST00000634620.1:n.3664A>T
ENST00000634810.1:n.2265A>T
ENST00000634844.1:c.2776A>T	ENSP00000489398.1:p.Thr926Ser
ENST00000635406.1:n.266A>T
NM_000053.3:c.2920A>T	NP_000044.2:p.Thr974Ser
NM_001005918.2:c.2299A>T	NP_001005918.1:p.Thr767Ser
NM_001243182.1:c.2587A>T	NP_001230111.1:p.Thr863Ser
XM_005266423.2:c.2824A>T	XP_005266480.1:p.Thr942Ser
XM_005266424.3:c.2824A>T	XP_005266481.1:p.Thr942Ser
XM_005266427.2:c.2686A>T	XP_005266484.1:p.Thr896Ser
XM_005266428.1:c.2668A>T	XP_005266485.1:p.Thr890Ser
XM_005266430.3:c.2920A>T	XP_005266487.1:p.Thr974Ser
XM_005266431.2:c.2884A>T	XP_005266488.1:p.Thr962Ser
XM_005266432.2:c.2434A>T	XP_005266489.1:p.Thr812Ser
XM_006719837.2:c.2824A>T	XP_006719900.1:p.Thr942Ser
XM_006719838.1:c.736A>T	XP_006719901.1:p.Thr246Ser
XM_006719839.1:c.736A>T	XP_006719902.1:p.Thr246Ser
XM_011535117.1:c.2824A>T	XP_011533419.1:p.Thr942Ser
XM_011535118.1:c.2785A>T	XP_011533420.1:p.Thr929Ser
XM_011535119.1:c.2920A>T	XP_011533421.1:p.Thr974Ser
XM_011535120.1:c.2506A>T	XP_011533422.1:p.Thr836Ser
XM_011535121.1:c.2730+3583A>T	XP_011533423.1:n.2730+3583A>T
XM_011535122.1:c.1588A>T	XP_011533424.1:p.Thr530Ser
XR_941601.1:n.3139A>T
XR_941602.1:n.3139A>T
XR_941603.1:n.3139A>T
XR_941604.1:n.3139A>T
NM_001330578.1:c.2686A>T	NP_001317507.1:p.Thr896Ser
NM_001330579.1:c.2668A>T	NP_001317508.1:p.Thr890Ser
XM_005266424.4:c.2824A>T	XP_005266481.1:p.Thr942Ser
XM_005266430.4:c.2920A>T	XP_005266487.1:p.Thr974Ser
XM_005266431.4:c.2884A>T	XP_005266488.1:p.Thr962Ser
XM_006719837.3:c.2824A>T	XP_006719900.1:p.Thr942Ser
XM_011535117.3:c.2824A>T	XP_011533419.1:p.Thr942Ser
XM_017020627.1:c.2824A>T	XP_016876116.1:p.Thr942Ser
NM_000053.4:c.2920A>T MANE Select	NP_000044.2:p.Thr974Ser
NM_001005918.3:c.2299A>T	NP_001005918.1:p.Thr767Ser
NM_001330579.2:c.2668A>T	NP_001317508.1:p.Thr890Ser
NM_001243182.2:c.2587A>T	NP_001230111.1:p.Thr863Ser
NM_001330578.2:c.2686A>T	NP_001317507.1:p.Thr896Ser