Canonical Allele Identifier: CA408317479

Gene: BFSP1

Linked Data

• dbSNP Id: rs2033726129
• gnomAD v4: 20-17498977-A-G
• MyVariant Identifiers: chr20:g.17479622A>G (hg19) ; chr20:g.17498977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498977A>G , CM000682.2:g.17498977A>G	GRCh38
NC_000020.10:g.17479622A>G , CM000682.1:g.17479622A>G	GRCh37
NC_000020.9:g.17427622A>G	NCBI36
NG_012423.2:g.75244T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.799T>C MANE Select	ENSP00000367104.3:p.Tyr267His
ENST00000536626.7:c.382T>C	ENSP00000442522.1:p.Tyr128His
ENST00000377868.6:c.424T>C	ENSP00000367099.2:p.Tyr142His
ENST00000377873.7:c.799T>C	ENSP00000367104.3:p.Tyr267His
ENST00000536626.5:c.382T>C	ENSP00000442522.1:p.Tyr128His
NM_001161705.1:c.424T>C	NP_001155177.1:p.Tyr142His
NM_001195.4:c.799T>C	NP_001186.1:p.Tyr267His
NM_001278606.1:c.382T>C	NP_001265535.1:p.Tyr128His
NM_001278607.1:c.466T>C	NP_001265536.1:p.Tyr156His
NM_001278608.1:c.382T>C	NP_001265537.1:p.Tyr128His
XM_011529312.1:c.382T>C	XP_011527614.1:p.Tyr128His
XM_017028005.2:c.691T>C	XP_016883494.1:p.Tyr231His
NM_001195.5:c.799T>C MANE Select	NP_001186.1:p.Tyr267His
NM_001161705.2:c.424T>C	NP_001155177.1:p.Tyr142His
NM_001278606.2:c.382T>C	NP_001265535.1:p.Tyr128His
NM_001278607.2:c.466T>C	NP_001265536.1:p.Tyr156His
NM_001278608.2:c.382T>C	NP_001265537.1:p.Tyr128His