Canonical Allele Identifier: CA686354349
Gene: SLCO1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1250465473
gnomAD v3: 12-21176813-G-GA
gnomAD v4: 12-21176813-G-GA
MyVariant Identifiers: chr12:g.21329747_21329748insA (hg19) chr12:g.21176813_21176814insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21176817dup , CM000674.2:g.21176817dup GRCh38
NC_000012.11:g.21329751dup , CM000674.1:g.21329751dup GRCh37
NC_000012.10:g.21221018dup NCBI36
NG_011745.1:g.50624dup , LRG_1022:g.50624dup

Transcript Alleles

HGVS Amino-acid change
ENST00000256958.3:c.401dup MANE Select ENSP00000256958.2:p.Asn134LysfsTer12
ENST00000256958.2:c.401dup ENSP00000256958.2:p.Asn134LysfsTer12
ENST00000543498.5:c.467dup
NM_006446.4:c.401dup , LRG_1022t1:c.401dup NP_006437.3:p.Asn134LysfsTer12
NM_006446.5:c.401dup MANE Select NP_006437.3:p.Asn134LysfsTer12
Search 100 bp 5'
Search 100 bp 3'