Canonical Allele Identifier: CA596768602
Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs1159630447
gnomAD v2: 11-202990-G-T
gnomAD v4: 11-202990-G-T
MyVariant Identifiers: chr11:g.202990G>T (hg19) chr11:g.202990G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202990G>T , CM000673.2:g.202990G>T GRCh38
NC_000011.9:g.202990G>T , CM000673.1:g.202990G>T GRCh37
NC_000011.8:g.192990G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382762.8:c.*2312C>A MANE Select ENSP00000372210.3:n.*2312C>A
ENST00000325147.13:c.*2480C>A ENSP00000339093.7:n.*2480C>A
ENST00000382762.7:c.*2312C>A ENSP00000372210.3:n.*2312C>A
ENST00000410108.5:c.168+2621C>A ENSP00000386558.1:n.168+2621C>A
NM_001098787.1:c.*2312C>A NP_001092257.1:n.*2312C>A
NM_016526.4:c.*2480C>A NP_057610.2:n.*2480C>A
NM_001098787.2:c.*2312C>A MANE Select NP_001092257.1:n.*2312C>A
NM_016526.5:c.*2480C>A NP_057610.2:n.*2480C>A
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