Canonical Allele Identifier: CA408317467

Gene: BFSP1

Linked Data

• MyVariant Identifiers: chr20:g.17479617G>T (hg19) ; chr20:g.17498972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498972G>T , CM000682.2:g.17498972G>T	GRCh38
NC_000020.10:g.17479617G>T , CM000682.1:g.17479617G>T	GRCh37
NC_000020.9:g.17427617G>T	NCBI36
NG_012423.2:g.75249C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.804C>A MANE Select	ENSP00000367104.3:p.Asn268Lys
ENST00000536626.7:c.387C>A	ENSP00000442522.1:p.Asn129Lys
ENST00000377868.6:c.429C>A	ENSP00000367099.2:p.Asn143Lys
ENST00000377873.7:c.804C>A	ENSP00000367104.3:p.Asn268Lys
ENST00000536626.5:c.387C>A	ENSP00000442522.1:p.Asn129Lys
NM_001161705.1:c.429C>A	NP_001155177.1:p.Asn143Lys
NM_001195.4:c.804C>A	NP_001186.1:p.Asn268Lys
NM_001278606.1:c.387C>A	NP_001265535.1:p.Asn129Lys
NM_001278607.1:c.471C>A	NP_001265536.1:p.Asn157Lys
NM_001278608.1:c.387C>A	NP_001265537.1:p.Asn129Lys
XM_011529312.1:c.387C>A	XP_011527614.1:p.Asn129Lys
XM_017028005.2:c.696C>A	XP_016883494.1:p.Asn232Lys
NM_001195.5:c.804C>A MANE Select	NP_001186.1:p.Asn268Lys
NM_001161705.2:c.429C>A	NP_001155177.1:p.Asn143Lys
NM_001278606.2:c.387C>A	NP_001265535.1:p.Asn129Lys
NM_001278607.2:c.471C>A	NP_001265536.1:p.Asn157Lys
NM_001278608.2:c.387C>A	NP_001265537.1:p.Asn129Lys