Canonical Allele Identifier: CA645293917
Gene: BFSP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.17496935T>C , CM000682.2:g.17496935T>C GRCh38
NC_000020.10:g.17477580T>C , CM000682.1:g.17477580T>C GRCh37
NC_000020.9:g.17425580T>C NCBI36
NG_012423.2:g.77286A>G

Transcript Alleles

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