Canonical Allele Identifier: CA2353083635

Gene: BFSP1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17496935T= , CM000682.2:g.17496935T=	GRCh38
NC_000020.10:g.17477580T= , CM000682.1:g.17477580T=	GRCh37
NC_000020.9:g.17425580T=	NCBI36
NG_012423.2:g.77286A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001195.5:c.1042+3A= MANE Select	NP_001186.1:n.1042+3A=
ENST00000377873.8:c.1042+3A= MANE Select	ENSP00000367104.3:n.1042+3A=
NM_001161705.1:c.667+3A=	NP_001155177.1:n.667+3A=
NM_001161705.2:c.667+3A=	NP_001155177.1:n.667+3A=
NM_001195.4:c.1042+3A=	NP_001186.1:n.1042+3A=
NM_001278606.1:c.625+3A=	NP_001265535.1:n.625+3A=
NM_001278606.2:c.625+3A=	NP_001265535.1:n.625+3A=
NM_001278607.1:c.709+3A=	NP_001265536.1:n.709+3A=
NM_001278607.2:c.709+3A=	NP_001265536.1:n.709+3A=
NM_001278608.1:c.625+3A=	NP_001265537.1:n.625+3A=
NM_001278608.2:c.625+3A=	NP_001265537.1:n.625+3A=
ENST00000377868.6:c.667+3A=	ENSP00000367099.2:n.667+3A=
ENST00000377873.7:c.1042+3A=	ENSP00000367104.3:n.1042+3A=
ENST00000536626.5:c.625+3A=	ENSP00000442522.1:n.625+3A=
ENST00000536626.7:c.625+3A=	ENSP00000442522.1:n.625+3A=
XM_011529312.1:c.625+3A=	XP_011527614.1:n.625+3A=
XM_017028005.2:c.934+3A=	XP_016883494.1:n.934+3A=