Canonical Allele Identifier: CA163066177
Gene: BAIAP2L1 HGNC NCBI

Linked Data

dbSNP Id: rs568712063
gnomAD v2: 7-98021275-T-C
gnomAD v3: 7-98391963-T-C
gnomAD v4: 7-98391963-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.98391963T>C , CM000669.2:g.98391963T>C GRCh38
NC_000007.13:g.98021275T>C , CM000669.1:g.98021275T>C GRCh37
NC_000007.12:g.97859211T>C NCBI36
NG_013090.1:g.14153A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000005260.9:c.51+8839A>G MANE Select ENSP00000005260.8:n.51+8839A>G
ENST00000005260.8:c.51+8839A>G ENSP00000005260.8:n.51+8839A>G
ENST00000462558.5:n.267+8839A>G
ENST00000479789.1:n.357+8018A>G
NM_018842.4:c.51+8839A>G NP_061330.2:n.51+8839A>G
NM_018842.5:c.51+8839A>G MANE Select NP_061330.2:n.51+8839A>G