Canonical Allele Identifier: CA388032442

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520571A>G (hg19) ; chr13:g.51946435A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946435A>G , CM000675.2:g.51946435A>G	GRCh38
NC_000013.10:g.52520571A>G , CM000675.1:g.52520571A>G	GRCh37
NC_000013.9:g.51418572A>G	NCBI36
NG_008806.1:g.70060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*742T>C	ENSP00000489512.2:n.*742T>C
ENST00000673864.2:c.*1653T>C	ENSP00000501045.2:n.*1653T>C
ENST00000674147.2:c.2288T>C	ENSP00000500964.2:p.Phe763Ser
ENST00000242839.10:c.2909T>C MANE Select	ENSP00000242839.5:p.Phe970Ser
ENST00000344297.9:c.2288T>C	ENSP00000342559.5:p.Phe763Ser
ENST00000400366.6:c.2576T>C	ENSP00000383217.3:p.Phe859Ser
ENST00000448424.7:c.2657T>C	ENSP00000416738.3:p.Phe886Ser
ENST00000673772.1:c.2675T>C	ENSP00000501168.1:p.Phe892Ser
ENST00000673867.1:n.1056T>C
ENST00000674126.1:n.3272T>C
ENST00000674147.1:c.1844T>C	ENSP00000500964.1:p.Phe615Ser
ENST00000242839.8:c.2909T>C	ENSP00000242839.4:p.Phe970Ser
ENST00000344297.8:c.2288T>C	ENSP00000342559.5:p.Phe763Ser
ENST00000400366.5:c.2576T>C	ENSP00000383217.3:p.Phe859Ser
ENST00000400370.8:c.1619T>C	ENSP00000383221.3:p.Phe540Ser
ENST00000418097.7:c.2866-2144T>C	ENSP00000393343.2:n.2866-2144T>C
ENST00000448424.6:c.2675T>C	ENSP00000416738.2:p.Phe892Ser
ENST00000466629.1:n.129T>C
ENST00000634296.1:c.870T>C
ENST00000634308.1:c.*10T>C	ENSP00000489234.1:n.*10T>C
ENST00000634620.1:n.3653T>C
ENST00000634810.1:n.2254T>C
ENST00000634844.1:c.2765T>C	ENSP00000489398.1:p.Phe922Ser
ENST00000635406.1:n.255T>C
NM_000053.3:c.2909T>C	NP_000044.2:p.Phe970Ser
NM_001005918.2:c.2288T>C	NP_001005918.1:p.Phe763Ser
NM_001243182.1:c.2576T>C	NP_001230111.1:p.Phe859Ser
XM_005266423.2:c.2813T>C	XP_005266480.1:p.Phe938Ser
XM_005266424.3:c.2813T>C	XP_005266481.1:p.Phe938Ser
XM_005266427.2:c.2675T>C	XP_005266484.1:p.Phe892Ser
XM_005266428.1:c.2657T>C	XP_005266485.1:p.Phe886Ser
XM_005266430.3:c.2909T>C	XP_005266487.1:p.Phe970Ser
XM_005266431.2:c.2873T>C	XP_005266488.1:p.Phe958Ser
XM_005266432.2:c.2423T>C	XP_005266489.1:p.Phe808Ser
XM_006719837.2:c.2813T>C	XP_006719900.1:p.Phe938Ser
XM_006719838.1:c.725T>C	XP_006719901.1:p.Phe242Ser
XM_006719839.1:c.725T>C	XP_006719902.1:p.Phe242Ser
XM_011535117.1:c.2813T>C	XP_011533419.1:p.Phe938Ser
XM_011535118.1:c.2774T>C	XP_011533420.1:p.Phe925Ser
XM_011535119.1:c.2909T>C	XP_011533421.1:p.Phe970Ser
XM_011535120.1:c.2495T>C	XP_011533422.1:p.Phe832Ser
XM_011535121.1:c.2730+3572T>C	XP_011533423.1:n.2730+3572T>C
XM_011535122.1:c.1577T>C	XP_011533424.1:p.Phe526Ser
XR_941601.1:n.3128T>C
XR_941602.1:n.3128T>C
XR_941603.1:n.3128T>C
XR_941604.1:n.3128T>C
NM_001330578.1:c.2675T>C	NP_001317507.1:p.Phe892Ser
NM_001330579.1:c.2657T>C	NP_001317508.1:p.Phe886Ser
XM_005266424.4:c.2813T>C	XP_005266481.1:p.Phe938Ser
XM_005266430.4:c.2909T>C	XP_005266487.1:p.Phe970Ser
XM_005266431.4:c.2873T>C	XP_005266488.1:p.Phe958Ser
XM_006719837.3:c.2813T>C	XP_006719900.1:p.Phe938Ser
XM_011535117.3:c.2813T>C	XP_011533419.1:p.Phe938Ser
XM_017020627.1:c.2813T>C	XP_016876116.1:p.Phe938Ser
NM_000053.4:c.2909T>C MANE Select	NP_000044.2:p.Phe970Ser
NM_001005918.3:c.2288T>C	NP_001005918.1:p.Phe763Ser
NM_001330579.2:c.2657T>C	NP_001317508.1:p.Phe886Ser
NM_001243182.2:c.2576T>C	NP_001230111.1:p.Phe859Ser
NM_001330578.2:c.2675T>C	NP_001317507.1:p.Phe892Ser