Canonical Allele Identifier: CA509810161

Gene: BFSP1

Linked Data

• MyVariant Identifiers: chr20:g.17479515C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498870C>G , CM000682.2:g.17498870C>G	GRCh38
NC_000020.10:g.17479515C>G , CM000682.1:g.17479515C>G	GRCh37
NC_000020.9:g.17427515C>G	NCBI36
NG_012423.2:g.75351G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.906G>C MANE Select	ENSP00000367104.3:p.Leu302=
ENST00000536626.7:c.489G>C	ENSP00000442522.1:p.Leu163=
ENST00000377868.6:c.531G>C	ENSP00000367099.2:p.Leu177=
ENST00000377873.7:c.906G>C	ENSP00000367104.3:p.Leu302=
ENST00000536626.5:c.489G>C	ENSP00000442522.1:p.Leu163=
NM_001161705.1:c.531G>C	NP_001155177.1:p.Leu177=
NM_001195.4:c.906G>C	NP_001186.1:p.Leu302=
NM_001278606.1:c.489G>C	NP_001265535.1:p.Leu163=
NM_001278607.1:c.573G>C	NP_001265536.1:p.Leu191=
NM_001278608.1:c.489G>C	NP_001265537.1:p.Leu163=
XM_011529312.1:c.489G>C	XP_011527614.1:p.Leu163=
XM_017028005.2:c.798G>C	XP_016883494.1:p.Leu266=
NM_001195.5:c.906G>C MANE Select	NP_001186.1:p.Leu302=
NM_001161705.2:c.531G>C	NP_001155177.1:p.Leu177=
NM_001278606.2:c.489G>C	NP_001265535.1:p.Leu163=
NM_001278607.2:c.573G>C	NP_001265536.1:p.Leu191=
NM_001278608.2:c.489G>C	NP_001265537.1:p.Leu163=