Canonical Allele Identifier: CA12594076
Gene: BAIAP2L1 HGNC NCBI

Linked Data

dbSNP Id: rs9649213
gnomAD v2: 7-98021211-A-G
gnomAD v3: 7-98391899-A-G
gnomAD v4: 7-98391899-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.98391899A>G , CM000669.2:g.98391899A>G GRCh38
NC_000007.13:g.98021211A>G , CM000669.1:g.98021211A>G GRCh37
NC_000007.12:g.97859147A>G NCBI36
NG_013090.1:g.14217T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000005260.9:c.51+8903T>C MANE Select ENSP00000005260.8:n.51+8903T>C
ENST00000005260.8:c.51+8903T>C ENSP00000005260.8:n.51+8903T>C
ENST00000462558.5:n.267+8903T>C
ENST00000479789.1:n.357+8082T>C
NM_018842.4:c.51+8903T>C NP_061330.2:n.51+8903T>C
NM_018842.5:c.51+8903T>C MANE Select NP_061330.2:n.51+8903T>C