Canonical Allele Identifier: CA10636127
Community Standard Title: NM_000138.5(FBN1):c.*1949T>C
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409041A>G , CM000677.2:g.48409041A>G GRCh38
NC_000015.9:g.48701238A>G , CM000677.1:g.48701238A>G GRCh37
NC_000015.8:g.46488530A>G NCBI36
NG_008805.2:g.241748T>C , LRG_778:g.241748T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000138.5:c.*1949T>C MANE Select NP_000129.3:n.*1949T>C
ENST00000316623.10:c.*1949T>C MANE Select ENSP00000325527.5:n.*1949T>C
NM_000138.4:c.*1949T>C , LRG_778t1:c.*1949T>C NP_000129.3:n.*1949T>C
ENST00000316623.9:c.*1949T>C ENSP00000325527.5:n.*1949T>C
ENST00000682170.1:n.4746T>C
ENST00000682767.1:n.3862T>C
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