Canonical Allele Identifier: CA576372712
Gene: BAIAP2L1 HGNC NCBI

Linked Data

dbSNP Id: rs1422832100
gnomAD v2: 7-97993375-C-A
gnomAD v3: 7-98364063-C-A
gnomAD v4: 7-98364063-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.98364063C>A , CM000669.2:g.98364063C>A GRCh38
NC_000007.13:g.97993375C>A , CM000669.1:g.97993375C>A GRCh37
NC_000007.12:g.97831311C>A NCBI36
NG_013090.1:g.42053G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000005260.9:c.52-1631G>T MANE Select ENSP00000005260.8:n.52-1631G>T
ENST00000005260.8:c.52-1631G>T ENSP00000005260.8:n.52-1631G>T
ENST00000462558.5:n.268-1631G>T
ENST00000479789.1:n.358-1631G>T
NM_018842.4:c.52-1631G>T NP_061330.2:n.52-1631G>T
NM_018842.5:c.52-1631G>T MANE Select NP_061330.2:n.52-1631G>T