Canonical Allele Identifier: CA392321604

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704922C>A (hg19) ; chr15:g.48412725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412725C>A , CM000677.2:g.48412725C>A	GRCh38
NC_000015.9:g.48704922C>A , CM000677.1:g.48704922C>A	GRCh37
NC_000015.8:g.46492214C>A	NCBI36
NG_008805.2:g.238064G>T , LRG_778:g.238064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*878G>T	ENSP00000453958.2:n.*878G>T
ENST00000674301.2:c.*1583G>T	ENSP00000501333.2:n.*1583G>T
ENST00000682158.1:n.1451G>T
ENST00000682170.1:n.2251G>T
ENST00000682767.1:n.1367G>T
ENST00000316623.10:c.8070G>T MANE Select	ENSP00000325527.5:p.Met2690Ile
ENST00000674301.1:c.3236G>T	ENSP00000501333.1:n.3236G>T
ENST00000316623.9:c.8070G>T	ENSP00000325527.5:p.Met2690Ile
ENST00000559133.5:c.3439G>T
ENST00000561429.1:n.325G>T
NM_000138.4:c.8070G>T , LRG_778t1:c.8070G>T	NP_000129.3:p.Met2690Ile
NM_000138.5:c.8070G>T MANE Select	NP_000129.3:p.Met2690Ile