Canonical Allele Identifier: CA388026112

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515250T>C (hg19) ; chr13:g.51941114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941114T>C , CM000675.2:g.51941114T>C	GRCh38
NC_000013.10:g.52515250T>C , CM000675.1:g.52515250T>C	GRCh37
NC_000013.9:g.51413251T>C	NCBI36
NG_008806.1:g.75381A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1173A>G	ENSP00000489512.2:n.*1173A>G
ENST00000673864.2:c.*2267A>G	ENSP00000501045.2:n.*2267A>G
ENST00000674147.2:c.2902A>G	ENSP00000500964.2:p.Lys968Glu
ENST00000242839.10:c.3523A>G MANE Select	ENSP00000242839.5:p.Lys1175Glu
ENST00000344297.9:c.2902A>G	ENSP00000342559.5:p.Lys968Glu
ENST00000400366.6:c.3190A>G	ENSP00000383217.3:p.Lys1064Glu
ENST00000448424.7:c.3271A>G	ENSP00000416738.3:p.Lys1091Glu
ENST00000673772.1:c.3289A>G	ENSP00000501168.1:p.Lys1097Glu
ENST00000673867.1:n.3662A>G
ENST00000674126.1:n.3886A>G
ENST00000674147.1:c.2458A>G	ENSP00000500964.1:p.Lys820Glu
ENST00000242839.8:c.3523A>G	ENSP00000242839.4:p.Lys1175Glu
ENST00000344297.8:c.2902A>G	ENSP00000342559.5:p.Lys968Glu
ENST00000400366.5:c.3190A>G	ENSP00000383217.3:p.Lys1064Glu
ENST00000400370.8:c.2233A>G	ENSP00000383221.3:p.Lys745Glu
ENST00000418097.7:c.3328A>G	ENSP00000393343.2:p.Lys1110Glu
ENST00000448424.6:c.3289A>G	ENSP00000416738.2:p.Lys1097Glu
ENST00000634296.1:c.1301A>G
ENST00000634308.1:c.*624A>G	ENSP00000489234.1:n.*624A>G
ENST00000634620.1:n.4267A>G
ENST00000634810.1:n.2868A>G
ENST00000634844.1:c.3379A>G	ENSP00000489398.1:p.Lys1127Glu
NM_000053.3:c.3523A>G	NP_000044.2:p.Lys1175Glu
NM_001005918.2:c.2902A>G	NP_001005918.1:p.Lys968Glu
NM_001243182.1:c.3190A>G	NP_001230111.1:p.Lys1064Glu
XM_005266423.2:c.3427A>G	XP_005266480.1:p.Lys1143Glu
XM_005266424.3:c.3427A>G	XP_005266481.1:p.Lys1143Glu
XM_005266427.2:c.3289A>G	XP_005266484.1:p.Lys1097Glu
XM_005266428.1:c.3271A>G	XP_005266485.1:p.Lys1091Glu
XM_005266430.3:c.3523A>G	XP_005266487.1:p.Lys1175Glu
XM_005266431.2:c.3487A>G	XP_005266488.1:p.Lys1163Glu
XM_005266432.2:c.3037A>G	XP_005266489.1:p.Lys1013Glu
XM_006719837.2:c.3427A>G	XP_006719900.1:p.Lys1143Glu
XM_006719838.1:c.1339A>G	XP_006719901.1:p.Lys447Glu
XM_006719839.1:c.1156A>G	XP_006719902.1:p.Lys386Glu
XM_011535117.1:c.3427A>G	XP_011533419.1:p.Lys1143Glu
XM_011535118.1:c.3388A>G	XP_011533420.1:p.Lys1130Glu
XM_011535119.1:c.3340A>G	XP_011533421.1:p.Lys1114Glu
XM_011535120.1:c.3109A>G	XP_011533422.1:p.Lys1037Glu
XM_011535121.1:c.3010A>G	XP_011533423.1:p.Lys1004Glu
XM_011535122.1:c.2191A>G	XP_011533424.1:p.Lys731Glu
XR_941601.1:n.3742A>G
XR_941602.1:n.3742A>G
XR_941603.1:n.3742A>G
XR_941604.1:n.3742A>G
NM_001330578.1:c.3289A>G	NP_001317507.1:p.Lys1097Glu
NM_001330579.1:c.3271A>G	NP_001317508.1:p.Lys1091Glu
XM_005266424.4:c.3427A>G	XP_005266481.1:p.Lys1143Glu
XM_005266430.4:c.3523A>G	XP_005266487.1:p.Lys1175Glu
XM_005266431.4:c.3487A>G	XP_005266488.1:p.Lys1163Glu
XM_006719837.3:c.3427A>G	XP_006719900.1:p.Lys1143Glu
XM_011535117.3:c.3427A>G	XP_011533419.1:p.Lys1143Glu
XM_017020627.1:c.3427A>G	XP_016876116.1:p.Lys1143Glu
NM_000053.4:c.3523A>G MANE Select	NP_000044.2:p.Lys1175Glu
NM_001005918.3:c.2902A>G	NP_001005918.1:p.Lys968Glu
NM_001330579.2:c.3271A>G	NP_001317508.1:p.Lys1091Glu
NM_001243182.2:c.3190A>G	NP_001230111.1:p.Lys1064Glu
NM_001330578.2:c.3289A>G	NP_001317507.1:p.Lys1097Glu