Canonical Allele Identifier: CA2575716601
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425306A>G , CM000677.2:g.48425306A>G GRCh38
NC_000015.9:g.48717503A>G , CM000677.1:g.48717503A>G GRCh37
NC_000015.8:g.46504795A>G NCBI36
NG_008805.2:g.225483T>C , LRG_778:g.225483T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*261+63T>C ENSP00000453958.2:n.*261+63T>C
ENST00000674301.2:c.*966+63T>C ENSP00000501333.2:n.*966+63T>C
ENST00000682170.1:n.1634+63T>C
ENST00000682767.1:n.750+63T>C
ENST00000316623.10:c.7453+63T>C MANE Select ENSP00000325527.5:n.7453+63T>C
ENST00000674301.1:c.2619+63T>C ENSP00000501333.1:n.2619+63T>C
ENST00000316623.9:c.7453+63T>C ENSP00000325527.5:n.7453+63T>C
ENST00000559133.5:c.2822+63T>C
NM_000138.4:c.7453+63T>C , LRG_778t1:c.7453+63T>C NP_000129.3:n.7453+63T>C
NM_000138.5:c.7453+63T>C MANE Select NP_000129.3:n.7453+63T>C
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