Canonical Allele Identifier: CA388030515

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518396G>C (hg19) ; chr13:g.51944260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944260G>C , CM000675.2:g.51944260G>C	GRCh38
NC_000013.10:g.52518396G>C , CM000675.1:g.52518396G>C	GRCh37
NC_000013.9:g.51416397G>C	NCBI36
NG_008806.1:g.72235C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1706C>G	ENSP00000489512.2:n.*894-1706C>G
ENST00000673864.2:c.*1836C>G	ENSP00000501045.2:n.*1836C>G
ENST00000674147.2:c.2471C>G	ENSP00000500964.2:p.Thr824Ser
ENST00000242839.10:c.3092C>G MANE Select	ENSP00000242839.5:p.Thr1031Ser
ENST00000344297.9:c.2471C>G	ENSP00000342559.5:p.Thr824Ser
ENST00000400366.6:c.2759C>G	ENSP00000383217.3:p.Thr920Ser
ENST00000448424.7:c.2840C>G	ENSP00000416738.3:p.Thr947Ser
ENST00000673772.1:c.2858C>G	ENSP00000501168.1:p.Thr953Ser
ENST00000673867.1:n.3231C>G
ENST00000674126.1:n.3455C>G
ENST00000674147.1:c.2027C>G	ENSP00000500964.1:p.Thr676Ser
ENST00000242839.8:c.3092C>G	ENSP00000242839.4:p.Thr1031Ser
ENST00000344297.8:c.2471C>G	ENSP00000342559.5:p.Thr824Ser
ENST00000400366.5:c.2759C>G	ENSP00000383217.3:p.Thr920Ser
ENST00000400370.8:c.1802C>G	ENSP00000383221.3:p.Thr601Ser
ENST00000418097.7:c.2897C>G	ENSP00000393343.2:p.Thr966Ser
ENST00000448424.6:c.2858C>G	ENSP00000416738.2:p.Thr953Ser
ENST00000466629.1:n.312C>G
ENST00000634296.1:c.1022-1706C>G
ENST00000634308.1:c.*193C>G	ENSP00000489234.1:n.*193C>G
ENST00000634620.1:n.3836C>G
ENST00000634810.1:n.2437C>G
ENST00000634844.1:c.2948C>G	ENSP00000489398.1:p.Thr983Ser
ENST00000635406.1:n.438C>G
NM_000053.3:c.3092C>G	NP_000044.2:p.Thr1031Ser
NM_001005918.2:c.2471C>G	NP_001005918.1:p.Thr824Ser
NM_001243182.1:c.2759C>G	NP_001230111.1:p.Thr920Ser
XM_005266423.2:c.2996C>G	XP_005266480.1:p.Thr999Ser
XM_005266424.3:c.2996C>G	XP_005266481.1:p.Thr999Ser
XM_005266427.2:c.2858C>G	XP_005266484.1:p.Thr953Ser
XM_005266428.1:c.2840C>G	XP_005266485.1:p.Thr947Ser
XM_005266430.3:c.3092C>G	XP_005266487.1:p.Thr1031Ser
XM_005266431.2:c.3056C>G	XP_005266488.1:p.Thr1019Ser
XM_005266432.2:c.2606C>G	XP_005266489.1:p.Thr869Ser
XM_006719837.2:c.2996C>G	XP_006719900.1:p.Thr999Ser
XM_006719838.1:c.908C>G	XP_006719901.1:p.Thr303Ser
XM_006719839.1:c.877-1706C>G	XP_006719902.1:n.877-1706C>G
XM_011535117.1:c.2996C>G	XP_011533419.1:p.Thr999Ser
XM_011535118.1:c.2957C>G	XP_011533420.1:p.Thr986Ser
XM_011535119.1:c.3061-1706C>G	XP_011533421.1:n.3061-1706C>G
XM_011535120.1:c.2678C>G	XP_011533422.1:p.Thr893Ser
XM_011535121.1:c.2731-1706C>G	XP_011533423.1:n.2731-1706C>G
XM_011535122.1:c.1760C>G	XP_011533424.1:p.Thr587Ser
XR_941601.1:n.3311C>G
XR_941602.1:n.3311C>G
XR_941603.1:n.3311C>G
XR_941604.1:n.3311C>G
NM_001330578.1:c.2858C>G	NP_001317507.1:p.Thr953Ser
NM_001330579.1:c.2840C>G	NP_001317508.1:p.Thr947Ser
XM_005266424.4:c.2996C>G	XP_005266481.1:p.Thr999Ser
XM_005266430.4:c.3092C>G	XP_005266487.1:p.Thr1031Ser
XM_005266431.4:c.3056C>G	XP_005266488.1:p.Thr1019Ser
XM_006719837.3:c.2996C>G	XP_006719900.1:p.Thr999Ser
XM_011535117.3:c.2996C>G	XP_011533419.1:p.Thr999Ser
XM_017020627.1:c.2996C>G	XP_016876116.1:p.Thr999Ser
NM_000053.4:c.3092C>G MANE Select	NP_000044.2:p.Thr1031Ser
NM_001005918.3:c.2471C>G	NP_001005918.1:p.Thr824Ser
NM_001330579.2:c.2840C>G	NP_001317508.1:p.Thr947Ser
NM_001243182.2:c.2759C>G	NP_001230111.1:p.Thr920Ser
NM_001330578.2:c.2858C>G	NP_001317507.1:p.Thr953Ser