Canonical Allele Identifier: CA408316445

Gene: BFSP1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17496938C>A , CM000682.2:g.17496938C>A	GRCh38
NC_000020.10:g.17477583C>A , CM000682.1:g.17477583C>A	GRCh37
NC_000020.9:g.17425583C>A	NCBI36
NG_012423.2:g.77283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377873.8:c.1042G>T MANE Select	ENSP00000367104.3:p.Asp348Tyr
ENST00000536626.7:c.625G>T	ENSP00000442522.1:p.Asp209Tyr
ENST00000377868.6:c.667G>T	ENSP00000367099.2:p.Asp223Tyr
ENST00000377873.7:c.1042G>T	ENSP00000367104.3:p.Asp348Tyr
ENST00000536626.5:c.625G>T	ENSP00000442522.1:p.Asp209Tyr
NM_001161705.1:c.667G>T	NP_001155177.1:p.Asp223Tyr
NM_001195.4:c.1042G>T	NP_001186.1:p.Asp348Tyr
NM_001278606.1:c.625G>T	NP_001265535.1:p.Asp209Tyr
NM_001278607.1:c.709G>T	NP_001265536.1:p.Asp237Tyr
NM_001278608.1:c.625G>T	NP_001265537.1:p.Asp209Tyr
XM_011529312.1:c.625G>T	XP_011527614.1:p.Asp209Tyr
XM_017028005.2:c.934G>T	XP_016883494.1:p.Asp312Tyr
NM_001195.5:c.1042G>T MANE Select	NP_001186.1:p.Asp348Tyr
NM_001161705.2:c.667G>T	NP_001155177.1:p.Asp223Tyr
NM_001278606.2:c.625G>T	NP_001265535.1:p.Asp209Tyr
NM_001278607.2:c.709G>T	NP_001265536.1:p.Asp237Tyr
NM_001278608.2:c.625G>T	NP_001265537.1:p.Asp209Tyr