Canonical Allele Identifier: CA216874444

Gene: BET1L

Linked Data

• dbSNP Id: rs1029555479
• gnomAD v2: 11-202996-C-G
• gnomAD v3: 11-202996-C-G
• gnomAD v4: 11-202996-C-G
• MyVariant Identifiers: chr11:g.202996C>G (hg19) ; chr11:g.202996C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.202996C>G , CM000673.2:g.202996C>G	GRCh38
NC_000011.9:g.202996C>G , CM000673.1:g.202996C>G	GRCh37
NC_000011.8:g.192996C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382762.8:c.*2306G>C MANE Select	ENSP00000372210.3:n.*2306G>C
ENST00000325147.13:c.*2474G>C	ENSP00000339093.7:n.*2474G>C
ENST00000382762.7:c.*2306G>C	ENSP00000372210.3:n.*2306G>C
ENST00000410108.5:c.168+2615G>C	ENSP00000386558.1:n.168+2615G>C
NM_001098787.1:c.*2306G>C	NP_001092257.1:n.*2306G>C
NM_016526.4:c.*2474G>C	NP_057610.2:n.*2474G>C
NM_001098787.2:c.*2306G>C MANE Select	NP_001092257.1:n.*2306G>C
NM_016526.5:c.*2474G>C	NP_057610.2:n.*2474G>C