Canonical Allele Identifier: CA138604

Gene: BSND

Linked Data

• ClinVar Variation Id: 46550
• ClinVar RCV Id: RCV000039820 ; RCV000328993 ; RCV000883545 ; RCV001831692
• dbSNP Id: rs141611486
• ExAC: 1:55464922 C / T
• gnomAD v2: 1-55464922-C-T
• gnomAD v3: 1-54999249-C-T
• gnomAD v4: 1-54999249-C-T
• MyVariant Identifiers: chr1:g.55464922C>T (hg19) ; chr1:g.54999249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54999249C>T , CM000663.2:g.54999249C>T	GRCh38
NC_000001.10:g.55464922C>T , CM000663.1:g.55464922C>T	GRCh37
NC_000001.9:g.55237510C>T	NCBI36
NG_008965.1:g.5306C>T
NG_008965.2:g.5317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.63C>T MANE Select	ENSP00000498282.1:p.Leu21=
ENST00000371265.4:c.63C>T	ENSP00000360312.4:p.Leu21=
NM_057176.2:c.63C>T	NP_476517.1:p.Leu21=
NM_057176.3:c.63C>T MANE Select	NP_476517.1:p.Leu21=