Canonical Allele Identifier: CA408317455

Gene: BFSP1

Linked Data

• MyVariant Identifiers: chr20:g.17479612T>G (hg19) ; chr20:g.17498967T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498967T>G , CM000682.2:g.17498967T>G	GRCh38
NC_000020.10:g.17479612T>G , CM000682.1:g.17479612T>G	GRCh37
NC_000020.9:g.17427612T>G	NCBI36
NG_012423.2:g.75254A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.809A>C MANE Select	ENSP00000367104.3:p.Gln270Pro
ENST00000536626.7:c.392A>C	ENSP00000442522.1:p.Gln131Pro
ENST00000377868.6:c.434A>C	ENSP00000367099.2:p.Gln145Pro
ENST00000377873.7:c.809A>C	ENSP00000367104.3:p.Gln270Pro
ENST00000536626.5:c.392A>C	ENSP00000442522.1:p.Gln131Pro
NM_001161705.1:c.434A>C	NP_001155177.1:p.Gln145Pro
NM_001195.4:c.809A>C	NP_001186.1:p.Gln270Pro
NM_001278606.1:c.392A>C	NP_001265535.1:p.Gln131Pro
NM_001278607.1:c.476A>C	NP_001265536.1:p.Gln159Pro
NM_001278608.1:c.392A>C	NP_001265537.1:p.Gln131Pro
XM_011529312.1:c.392A>C	XP_011527614.1:p.Gln131Pro
XM_017028005.2:c.701A>C	XP_016883494.1:p.Gln234Pro
NM_001195.5:c.809A>C MANE Select	NP_001186.1:p.Gln270Pro
NM_001161705.2:c.434A>C	NP_001155177.1:p.Gln145Pro
NM_001278606.2:c.392A>C	NP_001265535.1:p.Gln131Pro
NM_001278607.2:c.476A>C	NP_001265536.1:p.Gln159Pro
NM_001278608.2:c.392A>C	NP_001265537.1:p.Gln131Pro