Canonical Allele Identifier: CA392340067

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48737641G>A (hg19) ; chr15:g.48445444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445444G>A , CM000677.2:g.48445444G>A	GRCh38
NC_000015.9:g.48737641G>A , CM000677.1:g.48737641G>A	GRCh37
NC_000015.8:g.46524933G>A	NCBI36
NG_008805.2:g.205345C>T , LRG_778:g.205345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5849C>T	ENSP00000453958.2:p.Thr1950Ile
ENST00000674301.2:c.5849C>T	ENSP00000501333.2:p.Thr1950Ile
ENST00000684448.1:n.4523C>T
ENST00000316623.10:c.5849C>T MANE Select	ENSP00000325527.5:p.Thr1950Ile
ENST00000674301.1:c.848C>T	ENSP00000501333.1:p.Thr283Ile
ENST00000316623.9:c.5849C>T	ENSP00000325527.5:p.Thr1950Ile
ENST00000537463.6:c.*1612C>T	ENSP00000440294.2:n.*1612C>T
ENST00000559133.5:c.1156C>T
NM_000138.4:c.5849C>T , LRG_778t1:c.5849C>T	NP_000129.3:p.Thr1950Ile
NM_000138.5:c.5849C>T MANE Select	NP_000129.3:p.Thr1950Ile