Canonical Allele Identifier: CA2723221855
Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs2133735052
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.203015C>G , CM000673.2:g.203015C>G GRCh38
NC_000011.9:g.203015C>G , CM000673.1:g.203015C>G GRCh37
NC_000011.8:g.193015C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382762.8:c.*2287G>C MANE Select ENSP00000372210.3:n.*2287G>C
ENST00000325147.13:c.*2455G>C ENSP00000339093.7:n.*2455G>C
ENST00000382762.7:c.*2287G>C ENSP00000372210.3:n.*2287G>C
ENST00000410108.5:c.168+2596G>C ENSP00000386558.1:n.168+2596G>C
NM_001098787.1:c.*2287G>C NP_001092257.1:n.*2287G>C
NM_016526.4:c.*2455G>C NP_057610.2:n.*2455G>C
NM_001098787.2:c.*2287G>C MANE Select NP_001092257.1:n.*2287G>C
NM_016526.5:c.*2455G>C NP_057610.2:n.*2455G>C
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