Canonical Allele Identifier: CA596768601
Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs1362602408
gnomAD v2: 11-202970-G-A
gnomAD v3: 11-202970-G-A
gnomAD v4: 11-202970-G-A
MyVariant Identifiers: chr11:g.202970G>A (hg19) chr11:g.202970G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202970G>A , CM000673.2:g.202970G>A GRCh38
NC_000011.9:g.202970G>A , CM000673.1:g.202970G>A GRCh37
NC_000011.8:g.192970G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382762.8:c.*2332C>T MANE Select ENSP00000372210.3:n.*2332C>T
ENST00000325147.13:c.*2500C>T ENSP00000339093.7:n.*2500C>T
ENST00000382762.7:c.*2332C>T ENSP00000372210.3:n.*2332C>T
ENST00000410108.5:c.168+2641C>T ENSP00000386558.1:n.168+2641C>T
NM_001098787.1:c.*2332C>T NP_001092257.1:n.*2332C>T
NM_016526.4:c.*2500C>T NP_057610.2:n.*2500C>T
NM_001098787.2:c.*2332C>T MANE Select NP_001092257.1:n.*2332C>T
NM_016526.5:c.*2500C>T NP_057610.2:n.*2500C>T
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