Canonical Allele Identifier: CA055100
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48452591T>A
GRCh37 chr15:g.48744788T>A
Revel Score:
ENST00000316623 (MANE Select) 0.606
ENST00000389087 0.606
ENST00000544030 0.606
gnomAD v2:
15:48744788 T / A
gnomAD v3:
15:48452591 T / A
gnomAD v4:
chr15-48452591-T-A
Joint Max Group AF 0.00016565 (AFR)
Genomes Max Group AF 0.00009564 (AFR)
Exomes Max Group AF 0.00018338 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48452591T>A , CM000677.2:g.48452591T>A GRCh38
NC_000015.9:g.48744788T>A , CM000677.1:g.48744788T>A GRCh37
NC_000015.8:g.46532080T>A NCBI36
NG_008805.2:g.198198A>T , LRG_778:g.198198A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5516A>T ENSP00000453958.2:p.Tyr1839Phe
ENST00000674301.2:c.5516A>T ENSP00000501333.2:p.Tyr1839Phe
ENST00000684448.1:n.4190A>T
ENST00000316623.10:c.5516A>T MANE Select ENSP00000325527.5:p.Tyr1839Phe
ENST00000674301.1:c.515A>T ENSP00000501333.1:p.Tyr172Phe
ENST00000316623.9:c.5516A>T ENSP00000325527.5:p.Tyr1839Phe
ENST00000537463.6:c.*1279A>T ENSP00000440294.2:n.*1279A>T
ENST00000559133.5:c.823A>T
NM_000138.4:c.5516A>T , LRG_778t1:c.5516A>T NP_000129.3:p.Tyr1839Phe
NM_000138.5:c.5516A>T MANE Select NP_000129.3:p.Tyr1839Phe
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