Canonical Allele Identifier: CA509810285

Gene: BFSP1

Linked Data

• gnomAD v4: 20-17498966-C-T
• MyVariant Identifiers: chr20:g.17479611C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498966C>T , CM000682.2:g.17498966C>T	GRCh38
NC_000020.10:g.17479611C>T , CM000682.1:g.17479611C>T	GRCh37
NC_000020.9:g.17427611C>T	NCBI36
NG_012423.2:g.75255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.810G>A MANE Select	ENSP00000367104.3:p.Gln270=
ENST00000536626.7:c.393G>A	ENSP00000442522.1:p.Gln131=
ENST00000377868.6:c.435G>A	ENSP00000367099.2:p.Gln145=
ENST00000377873.7:c.810G>A	ENSP00000367104.3:p.Gln270=
ENST00000536626.5:c.393G>A	ENSP00000442522.1:p.Gln131=
NM_001161705.1:c.435G>A	NP_001155177.1:p.Gln145=
NM_001195.4:c.810G>A	NP_001186.1:p.Gln270=
NM_001278606.1:c.393G>A	NP_001265535.1:p.Gln131=
NM_001278607.1:c.477G>A	NP_001265536.1:p.Gln159=
NM_001278608.1:c.393G>A	NP_001265537.1:p.Gln131=
XM_011529312.1:c.393G>A	XP_011527614.1:p.Gln131=
XM_017028005.2:c.702G>A	XP_016883494.1:p.Gln234=
NM_001195.5:c.810G>A MANE Select	NP_001186.1:p.Gln270=
NM_001161705.2:c.435G>A	NP_001155177.1:p.Gln145=
NM_001278606.2:c.393G>A	NP_001265535.1:p.Gln131=
NM_001278607.2:c.477G>A	NP_001265536.1:p.Gln159=
NM_001278608.2:c.393G>A	NP_001265537.1:p.Gln131=