Canonical Allele Identifier: CA674443406

Gene: BET1L

Linked Data

• dbSNP Id: rs1385337374
• gnomAD v4: 11-203010-G-A
• MyVariant Identifiers: chr11:g.203010G>A (hg19) ; chr11:g.203010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.203010G>A , CM000673.2:g.203010G>A	GRCh38
NC_000011.9:g.203010G>A , CM000673.1:g.203010G>A	GRCh37
NC_000011.8:g.193010G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382762.8:c.*2292C>T MANE Select	ENSP00000372210.3:n.*2292C>T
ENST00000325147.13:c.*2460C>T	ENSP00000339093.7:n.*2460C>T
ENST00000382762.7:c.*2292C>T	ENSP00000372210.3:n.*2292C>T
ENST00000410108.5:c.168+2601C>T	ENSP00000386558.1:n.168+2601C>T
NM_001098787.1:c.*2292C>T	NP_001092257.1:n.*2292C>T
NM_016526.4:c.*2460C>T	NP_057610.2:n.*2460C>T
NM_001098787.2:c.*2292C>T MANE Select	NP_001092257.1:n.*2292C>T
NM_016526.5:c.*2460C>T	NP_057610.2:n.*2460C>T