Canonical Allele Identifier: CA122091

Linked Data

ClinVar Variation Id: 12283
ClinVar RCV Id: RCV000013076
dbSNP Id: rs72551351

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233767922A>G , CM000664.2:g.233767922A>G GRCh38
NC_000002.11:g.234676568A>G , CM000664.1:g.234676568A>G GRCh37
NC_000002.10:g.234341307A>G NCBI36
NG_002601.2:g.183179A>G
NG_033238.1:g.12650A>G , LRG_733:g.12650A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305139.11:c.1067A>G MANE Select ENSP00000303174.6:p.Gln356Arg
ENST00000305208.10:c.1070A>G MANE Select ENSP00000304845.5:p.Gln357Arg
ENST00000354728.5:c.1061A>G MANE Select ENSP00000346768.4:p.Gln354Arg
ENST00000373409.8:c.1073A>G MANE Select ENSP00000362508.4:p.Gln358Arg
ENST00000305139.10:c.1067A>G ENSP00000303174.6:p.Gln356Arg
ENST00000305208.9:c.1070A>G ENSP00000304845.5:p.Gln357Arg
ENST00000344644.9:c.1061A>G ENSP00000343838.5:p.Gln354Arg
ENST00000354728.4:c.1061A>G ENSP00000346768.4:p.Gln354Arg
ENST00000360418.4:n.1070A>G ENSP00000353593.3:p.Gln357Arg
ENST00000373409.7:c.1073A>G ENSP00000362508.3:p.Gln358Arg
ENST00000373414.3:n.1073A>G ENSP00000362513.3:p.Gln358Arg
ENST00000373424.5:c.266A>G ENSP00000362523.1:p.Gln89Arg
ENST00000373426.3:n.1061A>G ENSP00000362525.3:p.Gln354Arg
ENST00000373445.1:c.1061A>G ENSP00000362544.1:p.Gln354Arg
ENST00000373450.4:c.1061A>G ENSP00000362549.4:p.Gln354Arg
ENST00000406651.1:c.266A>G ENSP00000386107.1:p.Gln89Arg
ENST00000446481.6:c.266A>G ENSP00000401541.1:p.Gln89Arg
ENST00000450233.1:n.1073A>G ENSP00000408608.1:p.Gln358Arg
ENST00000482026.5:c.1073A>G ENSP00000418532.1:p.Gln358Arg
NM_000463.2:c.1070A>G , LRG_733t1:c.1070A>G (UGT1A1) NP_000454.1:p.Gln357Arg
NM_001072.3:c.1067A>G (UGT1A6) NP_001063.2:p.Gln356Arg
NM_007120.2:c.1073A>G (UGT1A4) NP_009051.1:p.Gln358Arg
NM_019075.2:c.1061A>G (UGT1A10) NP_061948.1:p.Gln354Arg
NM_019076.4:c.1061A>G (UGT1A8) NP_061949.3:p.Gln354Arg
NM_019077.2:n.1061A>G (UGT1A7) NP_061950.2:p.Gln354Arg
NM_019078.1:n.1073A>G (UGT1A5) NP_061951.1:p.Gln358Arg
NM_019093.2:n.1073A>G (UGT1A3) NP_061966.1:p.Gln358Arg
NM_021027.2:c.1061A>G (UGT1A9) NP_066307.1:p.Gln354Arg
NM_205862.1:c.266A>G (UGT1A6) NP_995584.1:p.Gln89Arg
NM_001072.4:c.1067A>G (UGT1A6) MANE Select NP_001063.2:p.Gln356Arg
NM_021027.3:c.1061A>G (UGT1A9) MANE Select NP_066307.1:p.Gln354Arg
NM_000463.3:c.1070A>G (UGT1A1) MANE Select NP_000454.1:p.Gln357Arg
NM_007120.3:c.1073A>G (UGT1A4) MANE Select NP_009051.1:p.Gln358Arg
NM_019093.4:c.1073A>G (UGT1A3) MANE Select NP_061966.1:p.Gln358Arg
NM_205862.2:c.266A>G (UGT1A6) NP_995584.1:p.Gln89Arg
NM_019075.4:c.1061A>G (UGT1A10) NP_061948.1:p.Gln354Arg
NM_019076.5:c.1061A>G (UGT1A8) MANE Select NP_061949.3:p.Gln354Arg
NM_019077.3:c.1061A>G (UGT1A7) MANE Select NP_061950.2:p.Gln354Arg
NM_019078.2:c.1073A>G (UGT1A5) MANE Select NP_061951.1:p.Gln358Arg
NM_205862.3:c.266A>G (UGT1A6) NP_995584.1:p.Gln89Arg