Canonical Allele Identifier: CA122017

Gene: UGT1A10 UGT1A5 UGT1A7 UGT1A8 UGT1A3 UGT1A6 UGT1A1 UGT1A9 UGT1A4

Linked Data

• ClinVar Variation Id: 12268
• ClinVar RCV Id: RCV000013055
• dbSNP Id: rs111033539
• MyVariant Identifiers: chr2:g.234675806C>T (hg19) ; chr2:g.233767160C>T (hg38)
• PubMed: PMID:1634050 ; PMID:1692835

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233767160C>T , CM000664.2:g.233767160C>T	GRCh38
NC_000002.11:g.234675806C>T , CM000664.1:g.234675806C>T	GRCh37
NC_000002.10:g.234340545C>T	NCBI36
NG_002601.2:g.182417C>T
NG_033238.1:g.11888C>T , LRG_733:g.11888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344644.10:c.982C>T (UGT1A10) MANE Select	ENSP00000343838.5:p.Gln328Ter
ENST00000373414.4:c.994C>T (UGT1A5) MANE Select	ENSP00000362513.3:p.Gln332Ter
ENST00000373426.4:c.982C>T (UGT1A7) MANE Select	ENSP00000362525.3:p.Gln328Ter
ENST00000373450.5:c.982C>T (UGT1A8) MANE Select	ENSP00000362549.4:p.Gln328Ter
ENST00000482026.6:c.994C>T (UGT1A3) MANE Select	ENSP00000418532.1:p.Gln332Ter
ENST00000305139.11:c.988C>T (UGT1A6) MANE Select	ENSP00000303174.6:p.Gln330Ter
ENST00000305208.10:c.991C>T (UGT1A1) MANE Select	ENSP00000304845.5:p.Gln331Ter
ENST00000354728.5:c.982C>T (UGT1A9) MANE Select	ENSP00000346768.4:p.Gln328Ter
ENST00000373409.8:c.994C>T (UGT1A4) MANE Select	ENSP00000362508.4:p.Gln332Ter
ENST00000305139.10:c.988C>T (UGT1A6)	ENSP00000303174.6:p.Gln330Ter
ENST00000305208.9:c.991C>T (UGT1A1)	ENSP00000304845.5:p.Gln331Ter
ENST00000344644.9:c.982C>T (UGT1A10)	ENSP00000343838.5:p.Gln328Ter
ENST00000354728.4:c.982C>T (UGT1A9)	ENSP00000346768.4:p.Gln328Ter
ENST00000360418.4:c.991C>T (UGT1A1)	ENSP00000353593.3:p.Gln331Ter
ENST00000373409.7:c.994C>T (UGT1A4)	ENSP00000362508.3:p.Gln332Ter
ENST00000373414.3:c.994C>T	ENSP00000362513.3:p.Gln332Ter
ENST00000373424.5:c.187C>T (UGT1A6)	ENSP00000362523.1:p.Gln63Ter
ENST00000373426.3:c.982C>T (UGT1A7)	ENSP00000362525.3:p.Gln328Ter
ENST00000373445.1:c.982C>T (UGT1A10)	ENSP00000362544.1:p.Gln328Ter
ENST00000373450.4:c.982C>T (UGT1A8)	ENSP00000362549.4:p.Gln328Ter
ENST00000406651.1:c.187C>T (UGT1A6)	ENSP00000386107.1:p.Gln63Ter
ENST00000446481.6:c.187C>T (UGT1A6)	ENSP00000401541.1:p.Gln63Ter
ENST00000450233.1:c.994C>T (UGT1A4)	ENSP00000408608.1:p.Gln332Ter
ENST00000482026.5:c.994C>T	ENSP00000418532.1:p.Gln332Ter
NM_000463.2:c.991C>T , LRG_733t1:c.991C>T (UGT1A1)	NP_000454.1:p.Gln331Ter
NM_001072.3:c.988C>T (UGT1A6)	NP_001063.2:p.Gln330Ter
NM_007120.2:c.994C>T (UGT1A4)	NP_009051.1:p.Gln332Ter
NM_019075.2:c.982C>T (UGT1A10)	NP_061948.1:p.Gln328Ter
NM_019076.4:c.982C>T (UGT1A8)	NP_061949.3:p.Gln328Ter
NM_019077.2:c.982C>T (UGT1A7)	NP_061950.2:p.Gln328Ter
NM_019078.1:c.994C>T (UGT1A5)	NP_061951.1:p.Gln332Ter
NM_019093.2:c.994C>T (UGT1A3)	NP_061966.1:p.Gln332Ter
NM_021027.2:c.982C>T (UGT1A9)	NP_066307.1:p.Gln328Ter
NM_205862.1:c.187C>T (UGT1A6)	NP_995584.1:p.Gln63Ter
NM_001072.4:c.988C>T (UGT1A6) MANE Select	NP_001063.2:p.Gln330Ter
NM_021027.3:c.982C>T (UGT1A9) MANE Select	NP_066307.1:p.Gln328Ter
NM_000463.3:c.991C>T (UGT1A1) MANE Select	NP_000454.1:p.Gln331Ter
NM_007120.3:c.994C>T (UGT1A4) MANE Select	NP_009051.1:p.Gln332Ter
NM_019093.4:c.994C>T (UGT1A3) MANE Select	NP_061966.1:p.Gln332Ter
NM_205862.2:c.187C>T (UGT1A6)	NP_995584.1:p.Gln63Ter
NM_019075.4:c.982C>T (UGT1A10) MANE Select	NP_061948.1:p.Gln328Ter
NM_019076.5:c.982C>T (UGT1A8) MANE Select	NP_061949.3:p.Gln328Ter
NM_019077.3:c.982C>T (UGT1A7) MANE Select	NP_061950.2:p.Gln328Ter
NM_019078.2:c.994C>T (UGT1A5) MANE Select	NP_061951.1:p.Gln332Ter
NM_205862.3:c.187C>T (UGT1A6)	NP_995584.1:p.Gln63Ter