Canonical Allele Identifier: CA844393072
Gene: BAIAP2L1 HGNC NCBI

Linked Data

dbSNP Id: rs1295295607
gnomAD v3: 7-98391869-C-T
gnomAD v4: 7-98391869-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.98391869C>T , CM000669.2:g.98391869C>T GRCh38
NC_000007.13:g.98021181C>T , CM000669.1:g.98021181C>T GRCh37
NC_000007.12:g.97859117C>T NCBI36
NG_013090.1:g.14247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000005260.9:c.51+8933G>A MANE Select ENSP00000005260.8:n.51+8933G>A
ENST00000005260.8:c.51+8933G>A ENSP00000005260.8:n.51+8933G>A
ENST00000462558.5:n.267+8933G>A
ENST00000479789.1:n.357+8112G>A
NM_018842.4:c.51+8933G>A NP_061330.2:n.51+8933G>A
NM_018842.5:c.51+8933G>A MANE Select NP_061330.2:n.51+8933G>A