Canonical Allele Identifier: CA490016706

Gene: FBN1

Linked Data

• gnomAD v4: 15-48425394-C-A
• MyVariant Identifiers: chr15:g.48717591C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425394C>A , CM000677.2:g.48425394C>A	GRCh38
NC_000015.9:g.48717591C>A , CM000677.1:g.48717591C>A	GRCh37
NC_000015.8:g.46504883C>A	NCBI36
NG_008805.2:g.225395G>T , LRG_778:g.225395G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*236G>T	ENSP00000453958.2:n.*236G>T
ENST00000674301.2:c.*941G>T	ENSP00000501333.2:n.*941G>T
ENST00000682170.1:n.1609G>T
ENST00000682767.1:n.725G>T
ENST00000316623.10:c.7428G>T MANE Select	ENSP00000325527.5:p.Leu2476=
ENST00000674301.1:c.2594G>T	ENSP00000501333.1:n.2594G>T
ENST00000316623.9:c.7428G>T	ENSP00000325527.5:p.Leu2476=
ENST00000559133.5:c.2797G>T
NM_000138.4:c.7428G>T , LRG_778t1:c.7428G>T	NP_000129.3:p.Leu2476=
NM_000138.5:c.7428G>T MANE Select	NP_000129.3:p.Leu2476=