Canonical Allele Identifier: CA2560203733
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445158A>C , CM000677.2:g.48445158A>C GRCh38
NC_000015.9:g.48737355A>C , CM000677.1:g.48737355A>C GRCh37
NC_000015.8:g.46524647A>C NCBI36
NG_008805.2:g.205631T>G , LRG_778:g.205631T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+218T>G ENSP00000453958.2:n.5917+218T>G
ENST00000674301.2:c.5917+218T>G ENSP00000501333.2:n.5917+218T>G
ENST00000684448.1:n.4591+218T>G
ENST00000316623.10:c.5917+218T>G MANE Select ENSP00000325527.5:n.5917+218T>G
ENST00000674301.1:c.916+218T>G ENSP00000501333.1:n.916+218T>G
ENST00000316623.9:c.5917+218T>G ENSP00000325527.5:n.5917+218T>G
ENST00000537463.6:c.*1680+218T>G ENSP00000440294.2:n.*1680+218T>G
ENST00000559133.5:c.1224+218T>G
ENST00000560820.1:n.37+218T>G
NM_000138.4:c.5917+218T>G , LRG_778t1:c.5917+218T>G NP_000129.3:n.5917+218T>G
NM_000138.5:c.5917+218T>G MANE Select NP_000129.3:n.5917+218T>G
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