Canonical Allele Identifier: CA054359
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48463164C>T
GRCh37 chr15:g.48755361C>T
Revel Score:
ENST00000316623 (MANE Select) 0.511
ENST00000389087 0.511
ENST00000544030 0.511
gnomAD v2:
15:48755361 C / T
gnomAD v3:
15:48463164 C / T
gnomAD v4:
chr15-48463164-C-T
Joint Max Group AF 0.00002746 (NFE)
Exomes Max Group AF 0.00002828 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48463164C>T , CM000677.2:g.48463164C>T GRCh38
NC_000015.9:g.48755361C>T , CM000677.1:g.48755361C>T GRCh37
NC_000015.8:g.46542653C>T NCBI36
NG_008805.2:g.187625G>A , LRG_778:g.187625G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5142G>A ENSP00000453958.2:p.Met1714Ile
ENST00000674301.2:c.5142G>A ENSP00000501333.2:p.Met1714Ile
ENST00000684448.1:n.3816G>A
ENST00000316623.10:c.5142G>A MANE Select ENSP00000325527.5:p.Met1714Ile
ENST00000674301.1:c.141G>A ENSP00000501333.1:p.Met47Ile
ENST00000316623.9:c.5142G>A ENSP00000325527.5:p.Met1714Ile
ENST00000537463.6:c.*905G>A ENSP00000440294.2:n.*905G>A
ENST00000559133.5:c.449G>A
NM_000138.4:c.5142G>A , LRG_778t1:c.5142G>A NP_000129.3:p.Met1714Ile
NM_000138.5:c.5142G>A MANE Select NP_000129.3:p.Met1714Ile
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