Canonical Allele Identifier: CA216874440
Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs774808561
gnomAD v3: 11-202989-T-C
gnomAD v4: 11-202989-T-C
MyVariant Identifiers: chr11:g.202989T>C (hg19) chr11:g.202989T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202989T>C , CM000673.2:g.202989T>C GRCh38
NC_000011.9:g.202989T>C , CM000673.1:g.202989T>C GRCh37
NC_000011.8:g.192989T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382762.8:c.*2313A>G MANE Select ENSP00000372210.3:n.*2313A>G
ENST00000325147.13:c.*2481A>G ENSP00000339093.7:n.*2481A>G
ENST00000382762.7:c.*2313A>G ENSP00000372210.3:n.*2313A>G
ENST00000410108.5:c.168+2622A>G ENSP00000386558.1:n.168+2622A>G
NM_001098787.1:c.*2313A>G NP_001092257.1:n.*2313A>G
NM_016526.4:c.*2481A>G NP_057610.2:n.*2481A>G
NM_001098787.2:c.*2313A>G MANE Select NP_001092257.1:n.*2313A>G
NM_016526.5:c.*2481A>G NP_057610.2:n.*2481A>G
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