Canonical Allele Identifier: CA2617895846
Gene: SLCO1B1 HGNC NCBI

Linked Data

gnomAD v4: 12-21200665-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21200667dup , CM000674.2:g.21200667dup GRCh38
NC_000012.11:g.21353601dup , CM000674.1:g.21353601dup GRCh37
NC_000012.10:g.21244868dup NCBI36
NG_011745.1:g.74474dup , LRG_1022:g.74474dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000256958.3:c.1130dup MANE Select ENSP00000256958.2:p.Leu377PhefsTer22
ENST00000256958.2:c.1130dup ENSP00000256958.2:p.Leu377PhefsTer22
NM_006446.4:c.1130dup , LRG_1022t1:c.1130dup NP_006437.3:p.Leu377PhefsTer22
NM_006446.5:c.1130dup MANE Select NP_006437.3:p.Leu377PhefsTer22
Search 100 bp 5'
Search 100 bp 3'