Canonical Allele Identifier: CA408317463

Gene: BFSP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.806A>C MANE Select	ENSP00000367104.3:p.Glu269Ala
ENST00000536626.7:c.389A>C	ENSP00000442522.1:p.Glu130Ala
ENST00000377868.6:c.431A>C	ENSP00000367099.2:p.Glu144Ala
ENST00000377873.7:c.806A>C	ENSP00000367104.3:p.Glu269Ala
ENST00000536626.5:c.389A>C	ENSP00000442522.1:p.Glu130Ala
NM_001161705.1:c.431A>C	NP_001155177.1:p.Glu144Ala
NM_001195.4:c.806A>C	NP_001186.1:p.Glu269Ala
NM_001278606.1:c.389A>C	NP_001265535.1:p.Glu130Ala
NM_001278607.1:c.473A>C	NP_001265536.1:p.Glu158Ala
NM_001278608.1:c.389A>C	NP_001265537.1:p.Glu130Ala
XM_011529312.1:c.389A>C	XP_011527614.1:p.Glu130Ala
XM_017028005.2:c.698A>C	XP_016883494.1:p.Glu233Ala
NM_001195.5:c.806A>C MANE Select	NP_001186.1:p.Glu269Ala
NM_001161705.2:c.431A>C	NP_001155177.1:p.Glu144Ala
NM_001278606.2:c.389A>C	NP_001265535.1:p.Glu130Ala
NM_001278607.2:c.473A>C	NP_001265536.1:p.Glu158Ala
NM_001278608.2:c.389A>C	NP_001265537.1:p.Glu130Ala