Canonical Allele Identifier: CA408317476

Gene: BFSP1

Linked Data

• dbSNP Id: rs1166089698
• gnomAD v2: 20-17479621-T-C
• gnomAD v4: 20-17498976-T-C
• MyVariant Identifiers: chr20:g.17479621T>C (hg19) ; chr20:g.17498976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498976T>C , CM000682.2:g.17498976T>C	GRCh38
NC_000020.10:g.17479621T>C , CM000682.1:g.17479621T>C	GRCh37
NC_000020.9:g.17427621T>C	NCBI36
NG_012423.2:g.75245A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.800A>G MANE Select	ENSP00000367104.3:p.Tyr267Cys
ENST00000536626.7:c.383A>G	ENSP00000442522.1:p.Tyr128Cys
ENST00000377868.6:c.425A>G	ENSP00000367099.2:p.Tyr142Cys
ENST00000377873.7:c.800A>G	ENSP00000367104.3:p.Tyr267Cys
ENST00000536626.5:c.383A>G	ENSP00000442522.1:p.Tyr128Cys
NM_001161705.1:c.425A>G	NP_001155177.1:p.Tyr142Cys
NM_001195.4:c.800A>G	NP_001186.1:p.Tyr267Cys
NM_001278606.1:c.383A>G	NP_001265535.1:p.Tyr128Cys
NM_001278607.1:c.467A>G	NP_001265536.1:p.Tyr156Cys
NM_001278608.1:c.383A>G	NP_001265537.1:p.Tyr128Cys
XM_011529312.1:c.383A>G	XP_011527614.1:p.Tyr128Cys
XM_017028005.2:c.692A>G	XP_016883494.1:p.Tyr231Cys
NM_001195.5:c.800A>G MANE Select	NP_001186.1:p.Tyr267Cys
NM_001161705.2:c.425A>G	NP_001155177.1:p.Tyr142Cys
NM_001278606.2:c.383A>G	NP_001265535.1:p.Tyr128Cys
NM_001278607.2:c.467A>G	NP_001265536.1:p.Tyr156Cys
NM_001278608.2:c.383A>G	NP_001265537.1:p.Tyr128Cys