Canonical Allele Identifier: CA9772177

Gene: BFSP1

Linked Data

• dbSNP Id: rs747719323
• ExAC: 20:17479511 T / C
• gnomAD v2: 20-17479511-T-C
• MyVariant Identifiers: chr20:g.17479511T>C (hg19) ; chr20:g.17498866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498866T>C , CM000682.2:g.17498866T>C	GRCh38
NC_000020.10:g.17479511T>C , CM000682.1:g.17479511T>C	GRCh37
NC_000020.9:g.17427511T>C	NCBI36
NG_012423.2:g.75355A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.910A>G MANE Select	ENSP00000367104.3:p.Asn304Asp
ENST00000536626.7:c.493A>G	ENSP00000442522.1:p.Asn165Asp
ENST00000377868.6:c.535A>G	ENSP00000367099.2:p.Asn179Asp
ENST00000377873.7:c.910A>G	ENSP00000367104.3:p.Asn304Asp
ENST00000536626.5:c.493A>G	ENSP00000442522.1:p.Asn165Asp
NM_001161705.1:c.535A>G	NP_001155177.1:p.Asn179Asp
NM_001195.4:c.910A>G	NP_001186.1:p.Asn304Asp
NM_001278606.1:c.493A>G	NP_001265535.1:p.Asn165Asp
NM_001278607.1:c.577A>G	NP_001265536.1:p.Asn193Asp
NM_001278608.1:c.493A>G	NP_001265537.1:p.Asn165Asp
XM_011529312.1:c.493A>G	XP_011527614.1:p.Asn165Asp
XM_017028005.2:c.802A>G	XP_016883494.1:p.Asn268Asp
NM_001195.5:c.910A>G MANE Select	NP_001186.1:p.Asn304Asp
NM_001161705.2:c.535A>G	NP_001155177.1:p.Asn179Asp
NM_001278606.2:c.493A>G	NP_001265535.1:p.Asn165Asp
NM_001278607.2:c.577A>G	NP_001265536.1:p.Asn193Asp
NM_001278608.2:c.493A>G	NP_001265537.1:p.Asn165Asp