Canonical Allele Identifier: CA576372105
Gene: BAIAP2L1 HGNC NCBI

Linked Data

dbSNP Id: rs1246612812
gnomAD v2: 7-98021250-T-G
gnomAD v3: 7-98391938-T-G
gnomAD v4: 7-98391938-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.98391938T>G , CM000669.2:g.98391938T>G GRCh38
NC_000007.13:g.98021250T>G , CM000669.1:g.98021250T>G GRCh37
NC_000007.12:g.97859186T>G NCBI36
NG_013090.1:g.14178A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000005260.9:c.51+8864A>C MANE Select ENSP00000005260.8:n.51+8864A>C
ENST00000005260.8:c.51+8864A>C ENSP00000005260.8:n.51+8864A>C
ENST00000462558.5:n.267+8864A>C
ENST00000479789.1:n.357+8043A>C
NM_018842.4:c.51+8864A>C NP_061330.2:n.51+8864A>C
NM_018842.5:c.51+8864A>C MANE Select NP_061330.2:n.51+8864A>C