Canonical Allele Identifier: CA2651989248

Gene: BFSP1

Linked Data

• gnomAD v4: 20-17498780-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498780G>T , CM000682.2:g.17498780G>T	GRCh38
NC_000020.10:g.17479425G>T , CM000682.1:g.17479425G>T	GRCh37
NC_000020.9:g.17427425G>T	NCBI36
NG_012423.2:g.75441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377873.8:c.956+40C>A MANE Select	ENSP00000367104.3:n.956+40C>A
ENST00000536626.7:c.539+40C>A	ENSP00000442522.1:n.539+40C>A
ENST00000377868.6:c.581+40C>A	ENSP00000367099.2:n.581+40C>A
ENST00000377873.7:c.956+40C>A	ENSP00000367104.3:n.956+40C>A
ENST00000536626.5:c.539+40C>A	ENSP00000442522.1:n.539+40C>A
NM_001161705.1:c.581+40C>A	NP_001155177.1:n.581+40C>A
NM_001195.4:c.956+40C>A	NP_001186.1:n.956+40C>A
NM_001278606.1:c.539+40C>A	NP_001265535.1:n.539+40C>A
NM_001278607.1:c.623+40C>A	NP_001265536.1:n.623+40C>A
NM_001278608.1:c.539+40C>A	NP_001265537.1:n.539+40C>A
XM_011529312.1:c.539+40C>A	XP_011527614.1:n.539+40C>A
XM_017028005.2:c.848+40C>A	XP_016883494.1:n.848+40C>A
NM_001195.5:c.956+40C>A MANE Select	NP_001186.1:n.956+40C>A
NM_001161705.2:c.581+40C>A	NP_001155177.1:n.581+40C>A
NM_001278606.2:c.539+40C>A	NP_001265535.1:n.539+40C>A
NM_001278607.2:c.623+40C>A	NP_001265536.1:n.623+40C>A
NM_001278608.2:c.539+40C>A	NP_001265537.1:n.539+40C>A