Canonical Allele Identifier: CA388028837

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942528G>C , CM000675.2:g.51942528G>C	GRCh38
NC_000013.10:g.52516664G>C , CM000675.1:g.52516664G>C	GRCh37
NC_000013.9:g.51414665G>C	NCBI36
NG_008806.1:g.73967C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3270C>G MANE Select	NP_000044.2:p.Tyr1090Ter
ENST00000242839.10:c.3270C>G MANE Select	ENSP00000242839.5:p.Tyr1090Ter
NM_000053.3:c.3270C>G	NP_000044.2:p.Tyr1090Ter
NM_001005918.2:c.2649C>G	NP_001005918.1:p.Tyr883Ter
NM_001005918.3:c.2649C>G	NP_001005918.1:p.Tyr883Ter
NM_001243182.1:c.2937C>G	NP_001230111.1:p.Tyr979Ter
NM_001243182.2:c.2937C>G	NP_001230111.1:p.Tyr979Ter
NM_001330578.1:c.3036C>G	NP_001317507.1:p.Tyr1012Ter
NM_001330578.2:c.3036C>G	NP_001317507.1:p.Tyr1012Ter
NM_001330579.1:c.3018C>G	NP_001317508.1:p.Tyr1006Ter
NM_001330579.2:c.3018C>G	NP_001317508.1:p.Tyr1006Ter
ENST00000242839.8:c.3270C>G	ENSP00000242839.4:p.Tyr1090Ter
ENST00000344297.8:c.2649C>G	ENSP00000342559.5:p.Tyr883Ter
ENST00000344297.9:c.2649C>G	ENSP00000342559.5:p.Tyr883Ter
ENST00000400366.5:c.2937C>G	ENSP00000383217.3:p.Tyr979Ter
ENST00000400366.6:c.2937C>G	ENSP00000383217.3:p.Tyr979Ter
ENST00000400370.8:c.1980C>G	ENSP00000383221.3:p.Tyr660Ter
ENST00000418097.7:c.3075C>G	ENSP00000393343.2:p.Tyr1025Ter
ENST00000448424.6:c.3036C>G	ENSP00000416738.2:p.Tyr1012Ter
ENST00000448424.7:c.3018C>G	ENSP00000416738.3:p.Tyr1006Ter
ENST00000634296.1:c.1048C>G
ENST00000634296.2:c.*920C>G	ENSP00000489512.2:n.*920C>G
ENST00000634308.1:c.*371C>G	ENSP00000489234.1:n.*371C>G
ENST00000634620.1:n.4014C>G
ENST00000634810.1:n.2615C>G
ENST00000634844.1:c.3126C>G	ENSP00000489398.1:p.Tyr1042Ter
ENST00000673772.1:c.3036C>G	ENSP00000501168.1:p.Tyr1012Ter
ENST00000673864.2:c.*2014C>G	ENSP00000501045.2:n.*2014C>G
ENST00000673867.1:n.3409C>G
ENST00000674126.1:n.3633C>G
ENST00000674147.1:c.2205C>G	ENSP00000500964.1:p.Tyr735Ter
ENST00000674147.2:c.2649C>G	ENSP00000500964.2:p.Tyr883Ter
XM_005266423.2:c.3174C>G	XP_005266480.1:p.Tyr1058Ter
XM_005266424.3:c.3174C>G	XP_005266481.1:p.Tyr1058Ter
XM_005266424.4:c.3174C>G	XP_005266481.1:p.Tyr1058Ter
XM_005266427.2:c.3036C>G	XP_005266484.1:p.Tyr1012Ter
XM_005266428.1:c.3018C>G	XP_005266485.1:p.Tyr1006Ter
XM_005266430.3:c.3270C>G	XP_005266487.1:p.Tyr1090Ter
XM_005266430.4:c.3270C>G	XP_005266487.1:p.Tyr1090Ter
XM_005266431.2:c.3234C>G	XP_005266488.1:p.Tyr1078Ter
XM_005266431.4:c.3234C>G	XP_005266488.1:p.Tyr1078Ter
XM_005266432.2:c.2784C>G	XP_005266489.1:p.Tyr928Ter
XM_006719837.2:c.3174C>G	XP_006719900.1:p.Tyr1058Ter
XM_006719837.3:c.3174C>G	XP_006719900.1:p.Tyr1058Ter
XM_006719838.1:c.1086C>G	XP_006719901.1:p.Tyr362Ter
XM_006719839.1:c.903C>G	XP_006719902.1:p.Tyr301Ter
XM_011535117.1:c.3174C>G	XP_011533419.1:p.Tyr1058Ter
XM_011535117.3:c.3174C>G	XP_011533419.1:p.Tyr1058Ter
XM_011535118.1:c.3135C>G	XP_011533420.1:p.Tyr1045Ter
XM_011535119.1:c.3087C>G	XP_011533421.1:p.Tyr1029Ter
XM_011535120.1:c.2856C>G	XP_011533422.1:p.Tyr952Ter
XM_011535121.1:c.2757C>G	XP_011533423.1:p.Tyr919Ter
XM_011535122.1:c.1938C>G	XP_011533424.1:p.Tyr646Ter
XM_017020627.1:c.3174C>G	XP_016876116.1:p.Tyr1058Ter
XR_941601.1:n.3489C>G
XR_941602.1:n.3489C>G
XR_941603.1:n.3489C>G
XR_941604.1:n.3489C>G