Canonical Allele Identifier: CA2353084839

Gene: BFSP1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498880T= , CM000682.2:g.17498880T=	GRCh38
NC_000020.10:g.17479525T= , CM000682.1:g.17479525T=	GRCh37
NC_000020.9:g.17427525T=	NCBI36
NG_012423.2:g.75341A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377873.8:c.896A= MANE Select	ENSP00000367104.3:p.Gln299=
ENST00000536626.7:c.479A=	ENSP00000442522.1:p.Gln160=
ENST00000377868.6:c.521A=	ENSP00000367099.2:p.Gln174=
ENST00000377873.7:c.896A=	ENSP00000367104.3:p.Gln299=
ENST00000536626.5:c.479A=	ENSP00000442522.1:p.Gln160=
NM_001161705.1:c.521A=	NP_001155177.1:p.Gln174=
NM_001195.4:c.896A=	NP_001186.1:p.Gln299=
NM_001278606.1:c.479A=	NP_001265535.1:p.Gln160=
NM_001278607.1:c.563A=	NP_001265536.1:p.Gln188=
NM_001278608.1:c.479A=	NP_001265537.1:p.Gln160=
XM_011529312.1:c.479A=	XP_011527614.1:p.Gln160=
XM_017028005.2:c.788A=	XP_016883494.1:p.Gln263=
NM_001195.5:c.896A= MANE Select	NP_001186.1:p.Gln299=
NM_001161705.2:c.521A=	NP_001155177.1:p.Gln174=
NM_001278606.2:c.479A=	NP_001265535.1:p.Gln160=
NM_001278607.2:c.563A=	NP_001265536.1:p.Gln188=
NM_001278608.2:c.479A=	NP_001265537.1:p.Gln160=