Canonical Allele Identifier: CA2180020

Linked Data

ClinVar Variation Id: 498022
dbSNP Id: rs143573365

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233768291G>A , CM000664.2:g.233768291G>A GRCh38
NC_000002.11:g.234676937G>A , CM000664.1:g.234676937G>A GRCh37
NC_000002.10:g.234341676G>A NCBI36
NG_002601.2:g.183548G>A
NG_033238.1:g.13019G>A , LRG_733:g.13019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344644.10:c.1147G>A (UGT1A10) MANE Select ENSP00000343838.5:p.Val383Ile
ENST00000373414.4:c.1159G>A (UGT1A5) MANE Select ENSP00000362513.3:p.Val387Ile
ENST00000373426.4:c.1147G>A (UGT1A7) MANE Select ENSP00000362525.3:p.Val383Ile
ENST00000373450.5:c.1147G>A (UGT1A8) MANE Select ENSP00000362549.4:p.Val383Ile
ENST00000482026.6:c.1159G>A (UGT1A3) MANE Select ENSP00000418532.1:p.Val387Ile
ENST00000305139.11:c.1153G>A (UGT1A6) MANE Select ENSP00000303174.6:p.Val385Ile
ENST00000305208.10:c.1156G>A (UGT1A1) MANE Select ENSP00000304845.5:p.Val386Ile
ENST00000354728.5:c.1147G>A (UGT1A9) MANE Select ENSP00000346768.4:p.Val383Ile
ENST00000373409.8:c.1159G>A (UGT1A4) MANE Select ENSP00000362508.4:p.Val387Ile
ENST00000305139.10:c.1153G>A (UGT1A6) ENSP00000303174.6:p.Val385Ile
ENST00000305208.9:c.1156G>A (UGT1A1) ENSP00000304845.5:p.Val386Ile
ENST00000344644.9:c.1147G>A (UGT1A10) ENSP00000343838.5:p.Val383Ile
ENST00000354728.4:c.1147G>A (UGT1A9) ENSP00000346768.4:p.Val383Ile
ENST00000360418.4:c.1156G>A (UGT1A1) ENSP00000353593.3:p.Val386Ile
ENST00000373409.7:c.1159G>A (UGT1A4) ENSP00000362508.3:p.Val387Ile
ENST00000373414.3:c.1159G>A ENSP00000362513.3:p.Val387Ile
ENST00000373424.5:c.352G>A (UGT1A6) ENSP00000362523.1:p.Val118Ile
ENST00000373426.3:c.1147G>A (UGT1A7) ENSP00000362525.3:p.Val383Ile
ENST00000373445.1:c.1147G>A (UGT1A10) ENSP00000362544.1:p.Val383Ile
ENST00000373450.4:c.1147G>A (UGT1A8) ENSP00000362549.4:p.Val383Ile
ENST00000406651.1:c.352G>A (UGT1A6) ENSP00000386107.1:p.Val118Ile
ENST00000446481.6:c.352G>A (UGT1A6) ENSP00000401541.1:p.Val118Ile
ENST00000450233.1:c.1159G>A (UGT1A4) ENSP00000408608.1:p.Val387Ile
ENST00000482026.5:c.1159G>A ENSP00000418532.1:p.Val387Ile
NM_000463.2:c.1156G>A , LRG_733t1:c.1156G>A (UGT1A1) NP_000454.1:p.Val386Ile
NM_001072.3:c.1153G>A (UGT1A6) NP_001063.2:p.Val385Ile
NM_007120.2:c.1159G>A (UGT1A4) NP_009051.1:p.Val387Ile
NM_019075.2:c.1147G>A (UGT1A10) NP_061948.1:p.Val383Ile
NM_019076.4:c.1147G>A (UGT1A8) NP_061949.3:p.Val383Ile
NM_019077.2:c.1147G>A (UGT1A7) NP_061950.2:p.Val383Ile
NM_019078.1:c.1159G>A (UGT1A5) NP_061951.1:p.Val387Ile
NM_019093.2:c.1159G>A (UGT1A3) NP_061966.1:p.Val387Ile
NM_021027.2:c.1147G>A (UGT1A9) NP_066307.1:p.Val383Ile
NM_205862.1:c.352G>A (UGT1A6) NP_995584.1:p.Val118Ile
NM_001072.4:c.1153G>A (UGT1A6) MANE Select NP_001063.2:p.Val385Ile
NM_021027.3:c.1147G>A (UGT1A9) MANE Select NP_066307.1:p.Val383Ile
NM_000463.3:c.1156G>A (UGT1A1) MANE Select NP_000454.1:p.Val386Ile
NM_007120.3:c.1159G>A (UGT1A4) MANE Select NP_009051.1:p.Val387Ile
NM_019093.4:c.1159G>A (UGT1A3) MANE Select NP_061966.1:p.Val387Ile
NM_205862.2:c.352G>A (UGT1A6) NP_995584.1:p.Val118Ile
NM_019075.4:c.1147G>A (UGT1A10) MANE Select NP_061948.1:p.Val383Ile
NM_019076.5:c.1147G>A (UGT1A8) MANE Select NP_061949.3:p.Val383Ile
NM_019077.3:c.1147G>A (UGT1A7) MANE Select NP_061950.2:p.Val383Ile
NM_019078.2:c.1159G>A (UGT1A5) MANE Select NP_061951.1:p.Val387Ile
NM_205862.3:c.352G>A (UGT1A6) NP_995584.1:p.Val118Ile