Canonical Allele Identifier: CA871345

Gene: BSND

Linked Data

• ClinVar Variation Id: 228463
• ClinVar RCV Id: RCV000216940 ; RCV001273326 ; RCV001331583 ; RCV003556280
• dbSNP Id: rs369618892
• ExAC: 1:55472879 C / T
• gnomAD v2: 1-55472879-C-T
• gnomAD v3: 1-55007206-C-T
• gnomAD v4: 1-55007206-C-T
• MyVariant Identifiers: chr1:g.55472879C>T (hg19) ; chr1:g.55007206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55007206C>T , CM000663.2:g.55007206C>T	GRCh38
NC_000001.10:g.55472879C>T , CM000663.1:g.55472879C>T	GRCh37
NC_000001.9:g.55245467C>T	NCBI36
NG_008965.1:g.13263C>T
NG_008965.2:g.13274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.482C>T MANE Select	ENSP00000498282.1:p.Ala161Val
ENST00000371265.4:c.482C>T	ENSP00000360312.4:p.Ala161Val
NM_057176.2:c.482C>T	NP_476517.1:p.Ala161Val
XM_006710883.2:c.251C>T	XP_006710946.1:p.Ala84Val
NM_057176.3:c.482C>T MANE Select	NP_476517.1:p.Ala161Val