Canonical Allele Identifier: CA408317258

Gene: BFSP1

Linked Data

• MyVariant Identifiers: chr20:g.17479516A>C (hg19) ; chr20:g.17498871A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498871A>C , CM000682.2:g.17498871A>C	GRCh38
NC_000020.10:g.17479516A>C , CM000682.1:g.17479516A>C	GRCh37
NC_000020.9:g.17427516A>C	NCBI36
NG_012423.2:g.75350T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.905T>G MANE Select	ENSP00000367104.3:p.Leu302Arg
ENST00000536626.7:c.488T>G	ENSP00000442522.1:p.Leu163Arg
ENST00000377868.6:c.530T>G	ENSP00000367099.2:p.Leu177Arg
ENST00000377873.7:c.905T>G	ENSP00000367104.3:p.Leu302Arg
ENST00000536626.5:c.488T>G	ENSP00000442522.1:p.Leu163Arg
NM_001161705.1:c.530T>G	NP_001155177.1:p.Leu177Arg
NM_001195.4:c.905T>G	NP_001186.1:p.Leu302Arg
NM_001278606.1:c.488T>G	NP_001265535.1:p.Leu163Arg
NM_001278607.1:c.572T>G	NP_001265536.1:p.Leu191Arg
NM_001278608.1:c.488T>G	NP_001265537.1:p.Leu163Arg
XM_011529312.1:c.488T>G	XP_011527614.1:p.Leu163Arg
XM_017028005.2:c.797T>G	XP_016883494.1:p.Leu266Arg
NM_001195.5:c.905T>G MANE Select	NP_001186.1:p.Leu302Arg
NM_001161705.2:c.530T>G	NP_001155177.1:p.Leu177Arg
NM_001278606.2:c.488T>G	NP_001265535.1:p.Leu163Arg
NM_001278607.2:c.572T>G	NP_001265536.1:p.Leu191Arg
NM_001278608.2:c.488T>G	NP_001265537.1:p.Leu163Arg