×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA686364583
Gene: SLCO1B1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1406615818
gnomAD v3:
12-21196814-CA-C
gnomAD v4:
12-21196814-CA-C
MyVariant Identifiers:
chr12:g.21349749del (hg19)
chr12:g.21196815del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.21196820del , CM000674.2:g.21196820del
GRCh38
NC_000012.11:g.21349754del , CM000674.1:g.21349754del
GRCh37
NC_000012.10:g.21241021del
NCBI36
NG_011745.1:g.70627del , LRG_1022:g.70627del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256958.3:c.728-126del
MANE Select
ENSP00000256958.2:n.728-126del
ENST00000256958.2:c.728-126del
ENSP00000256958.2:n.728-126del
NM_006446.4:c.728-126del , LRG_1022t1:c.728-126del
NP_006437.3:n.728-126del
NM_006446.5:c.728-126del
MANE Select
NP_006437.3:n.728-126del
Search 100 bp 5'
Search 100 bp 3'