Canonical Allele Identifier: CA934230364

Gene: BET1L

Linked Data

• dbSNP Id: rs1855068443
• gnomAD v3: 11-202926-A-C
• gnomAD v4: 11-202926-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.202926A>C , CM000673.2:g.202926A>C	GRCh38
NC_000011.9:g.202926A>C , CM000673.1:g.202926A>C	GRCh37
NC_000011.8:g.192926A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382762.8:c.*2376T>G MANE Select	ENSP00000372210.3:n.*2376T>G
ENST00000325147.13:c.*2544T>G	ENSP00000339093.7:n.*2544T>G
ENST00000382762.7:c.*2376T>G	ENSP00000372210.3:n.*2376T>G
ENST00000410108.5:c.168+2685T>G	ENSP00000386558.1:n.168+2685T>G
NM_001098787.1:c.*2376T>G	NP_001092257.1:n.*2376T>G
NM_016526.4:c.*2544T>G	NP_057610.2:n.*2544T>G
NM_001098787.2:c.*2376T>G MANE Select	NP_001092257.1:n.*2376T>G
NM_016526.5:c.*2544T>G	NP_057610.2:n.*2544T>G