Canonical Allele Identifier: CA340470656

Gene: BSND

Linked Data

• COSMIC: COSM681708
• MyVariant Identifiers: chr1:g.55464936T>A (hg19) ; chr1:g.54999263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54999263T>A , CM000663.2:g.54999263T>A	GRCh38
NC_000001.10:g.55464936T>A , CM000663.1:g.55464936T>A	GRCh37
NC_000001.9:g.55237524T>A	NCBI36
NG_008965.1:g.5320T>A
NG_008965.2:g.5331T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.77T>A MANE Select	ENSP00000498282.1:p.Met26Lys
ENST00000371265.4:c.77T>A	ENSP00000360312.4:p.Met26Lys
NM_057176.2:c.77T>A	NP_476517.1:p.Met26Lys
NM_057176.3:c.77T>A MANE Select	NP_476517.1:p.Met26Lys