Canonical Allele Identifier: CA934230367
Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs1689750730
gnomAD v3: 11-202938-G-C
gnomAD v4: 11-202938-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202938G>C , CM000673.2:g.202938G>C GRCh38
NC_000011.9:g.202938G>C , CM000673.1:g.202938G>C GRCh37
NC_000011.8:g.192938G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382762.8:c.*2364C>G MANE Select ENSP00000372210.3:n.*2364C>G
ENST00000325147.13:c.*2532C>G ENSP00000339093.7:n.*2532C>G
ENST00000382762.7:c.*2364C>G ENSP00000372210.3:n.*2364C>G
ENST00000410108.5:c.168+2673C>G ENSP00000386558.1:n.168+2673C>G
NM_001098787.1:c.*2364C>G NP_001092257.1:n.*2364C>G
NM_016526.4:c.*2532C>G NP_057610.2:n.*2532C>G
NM_001098787.2:c.*2364C>G MANE Select NP_001092257.1:n.*2364C>G
NM_016526.5:c.*2532C>G NP_057610.2:n.*2532C>G
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