Canonical Allele Identifier: CA576372713
Gene: BAIAP2L1 HGNC NCBI

Linked Data

dbSNP Id: rs1162795606
gnomAD v2: 7-97993384-C-T
gnomAD v3: 7-98364072-C-T
gnomAD v4: 7-98364072-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.98364072C>T , CM000669.2:g.98364072C>T GRCh38
NC_000007.13:g.97993384C>T , CM000669.1:g.97993384C>T GRCh37
NC_000007.12:g.97831320C>T NCBI36
NG_013090.1:g.42044G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000005260.9:c.52-1640G>A MANE Select ENSP00000005260.8:n.52-1640G>A
ENST00000005260.8:c.52-1640G>A ENSP00000005260.8:n.52-1640G>A
ENST00000462558.5:n.268-1640G>A
ENST00000479789.1:n.358-1640G>A
NM_018842.4:c.52-1640G>A NP_061330.2:n.52-1640G>A
NM_018842.5:c.52-1640G>A MANE Select NP_061330.2:n.52-1640G>A