Canonical Allele Identifier: CA10647080
Community Standard Title: NM_000138.5(FBN1):c.*1245C>T
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409745G>A , CM000677.2:g.48409745G>A GRCh38
NC_000015.9:g.48701942G>A , CM000677.1:g.48701942G>A GRCh37
NC_000015.8:g.46489234G>A NCBI36
NG_008805.2:g.241044C>T , LRG_778:g.241044C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000138.5:c.*1245C>T MANE Select NP_000129.3:n.*1245C>T
ENST00000316623.10:c.*1245C>T MANE Select ENSP00000325527.5:n.*1245C>T
NM_000138.4:c.*1245C>T , LRG_778t1:c.*1245C>T NP_000129.3:n.*1245C>T
ENST00000316623.9:c.*1245C>T ENSP00000325527.5:n.*1245C>T
ENST00000682170.1:n.4042C>T
ENST00000682767.1:n.3158C>T
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