Canonical Allele Identifier: CA408317461

Gene: BFSP1

Linked Data

• MyVariant Identifiers: chr20:g.17479615T>A (hg19) ; chr20:g.17498970T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498970T>A , CM000682.2:g.17498970T>A	GRCh38
NC_000020.10:g.17479615T>A , CM000682.1:g.17479615T>A	GRCh37
NC_000020.9:g.17427615T>A	NCBI36
NG_012423.2:g.75251A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.806A>T MANE Select	ENSP00000367104.3:p.Glu269Val
ENST00000536626.7:c.389A>T	ENSP00000442522.1:p.Glu130Val
ENST00000377868.6:c.431A>T	ENSP00000367099.2:p.Glu144Val
ENST00000377873.7:c.806A>T	ENSP00000367104.3:p.Glu269Val
ENST00000536626.5:c.389A>T	ENSP00000442522.1:p.Glu130Val
NM_001161705.1:c.431A>T	NP_001155177.1:p.Glu144Val
NM_001195.4:c.806A>T	NP_001186.1:p.Glu269Val
NM_001278606.1:c.389A>T	NP_001265535.1:p.Glu130Val
NM_001278607.1:c.473A>T	NP_001265536.1:p.Glu158Val
NM_001278608.1:c.389A>T	NP_001265537.1:p.Glu130Val
XM_011529312.1:c.389A>T	XP_011527614.1:p.Glu130Val
XM_017028005.2:c.698A>T	XP_016883494.1:p.Glu233Val
NM_001195.5:c.806A>T MANE Select	NP_001186.1:p.Glu269Val
NM_001161705.2:c.431A>T	NP_001155177.1:p.Glu144Val
NM_001278606.2:c.389A>T	NP_001265535.1:p.Glu130Val
NM_001278607.2:c.473A>T	NP_001265536.1:p.Glu158Val
NM_001278608.2:c.389A>T	NP_001265537.1:p.Glu130Val