Canonical Allele Identifier: CA388015964

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52524435T>A (hg19) ; chr13:g.51950299T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950299T>A , CM000675.2:g.51950299T>A	GRCh38
NC_000013.10:g.52524435T>A , CM000675.1:g.52524435T>A	GRCh37
NC_000013.9:g.51422436T>A	NCBI36
NG_008806.1:g.66196A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*381A>T	ENSP00000489512.2:n.*381A>T
ENST00000673864.2:c.*1292A>T	ENSP00000501045.2:n.*1292A>T
ENST00000674147.2:c.2062A>T	ENSP00000500964.2:p.Thr688Ser
ENST00000242839.10:c.2548A>T MANE Select	ENSP00000242839.5:p.Thr850Ser
ENST00000344297.9:c.2062A>T	ENSP00000342559.5:p.Thr688Ser
ENST00000400366.6:c.2215A>T	ENSP00000383217.3:p.Thr739Ser
ENST00000448424.7:c.2296A>T	ENSP00000416738.3:p.Thr766Ser
ENST00000673772.1:c.2314A>T	ENSP00000501168.1:p.Thr772Ser
ENST00000674147.1:c.1618A>T	ENSP00000500964.1:p.Thr540Ser
ENST00000242839.8:c.2548A>T	ENSP00000242839.4:p.Thr850Ser
ENST00000344297.8:c.2062A>T	ENSP00000342559.5:p.Thr688Ser
ENST00000400366.5:c.2215A>T	ENSP00000383217.3:p.Thr739Ser
ENST00000400370.8:c.1286-138A>T	ENSP00000383221.3:n.1286-138A>T
ENST00000418097.7:c.2548A>T	ENSP00000393343.2:p.Thr850Ser
ENST00000448424.6:c.2314A>T	ENSP00000416738.2:p.Thr772Ser
ENST00000634296.1:c.509A>T
ENST00000634308.1:c.2314A>T	ENSP00000489234.1:p.Thr772Ser
ENST00000634620.1:n.3346A>T
ENST00000634810.1:n.1893A>T
ENST00000634844.1:c.2404A>T	ENSP00000489398.1:p.Thr802Ser
ENST00000635406.1:n.212-3821A>T
NM_000053.3:c.2548A>T	NP_000044.2:p.Thr850Ser
NM_001005918.2:c.2062A>T	NP_001005918.1:p.Thr688Ser
NM_001243182.1:c.2215A>T	NP_001230111.1:p.Thr739Ser
XM_005266423.2:c.2452A>T	XP_005266480.1:p.Thr818Ser
XM_005266424.3:c.2452A>T	XP_005266481.1:p.Thr818Ser
XM_005266427.2:c.2314A>T	XP_005266484.1:p.Thr772Ser
XM_005266428.1:c.2296A>T	XP_005266485.1:p.Thr766Ser
XM_005266430.3:c.2548A>T	XP_005266487.1:p.Thr850Ser
XM_005266431.2:c.2512A>T	XP_005266488.1:p.Thr838Ser
XM_005266432.2:c.2062A>T	XP_005266489.1:p.Thr688Ser
XM_006719837.2:c.2452A>T	XP_006719900.1:p.Thr818Ser
XM_006719838.1:c.364A>T	XP_006719901.1:p.Thr122Ser
XM_006719839.1:c.364A>T	XP_006719902.1:p.Thr122Ser
XM_011535117.1:c.2452A>T	XP_011533419.1:p.Thr818Ser
XM_011535118.1:c.2548A>T	XP_011533420.1:p.Thr850Ser
XM_011535119.1:c.2548A>T	XP_011533421.1:p.Thr850Ser
XM_011535120.1:c.2134A>T	XP_011533422.1:p.Thr712Ser
XM_011535121.1:c.2548A>T	XP_011533423.1:p.Thr850Ser
XM_011535122.1:c.1216A>T	XP_011533424.1:p.Thr406Ser
XR_941601.1:n.2767A>T
XR_941602.1:n.2767A>T
XR_941603.1:n.2767A>T
XR_941604.1:n.2767A>T
NM_001330578.1:c.2314A>T	NP_001317507.1:p.Thr772Ser
NM_001330579.1:c.2296A>T	NP_001317508.1:p.Thr766Ser
XM_005266424.4:c.2452A>T	XP_005266481.1:p.Thr818Ser
XM_005266430.4:c.2548A>T	XP_005266487.1:p.Thr850Ser
XM_005266431.4:c.2512A>T	XP_005266488.1:p.Thr838Ser
XM_006719837.3:c.2452A>T	XP_006719900.1:p.Thr818Ser
XM_011535117.3:c.2452A>T	XP_011533419.1:p.Thr818Ser
XM_017020627.1:c.2452A>T	XP_016876116.1:p.Thr818Ser
NM_000053.4:c.2548A>T MANE Select	NP_000044.2:p.Thr850Ser
NM_001005918.3:c.2062A>T	NP_001005918.1:p.Thr688Ser
NM_001330579.2:c.2296A>T	NP_001317508.1:p.Thr766Ser
NM_001243182.2:c.2215A>T	NP_001230111.1:p.Thr739Ser
NM_001330578.2:c.2314A>T	NP_001317507.1:p.Thr772Ser