Canonical Allele Identifier: CA392320468

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48766758G>T (hg19) ; chr15:g.48474561G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474561G>T , CM000677.2:g.48474561G>T	GRCh38
NC_000015.9:g.48766758G>T , CM000677.1:g.48766758G>T	GRCh37
NC_000015.8:g.46554050G>T	NCBI36
NG_008805.2:g.176228C>A , LRG_778:g.176228C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4054C>A	ENSP00000453958.2:p.Pro1352Thr
ENST00000674301.2:c.4054C>A	ENSP00000501333.2:p.Pro1352Thr
ENST00000684448.1:n.2728C>A
ENST00000316623.10:c.4054C>A MANE Select	ENSP00000325527.5:p.Pro1352Thr
ENST00000316623.9:c.4054C>A	ENSP00000325527.5:p.Pro1352Thr
ENST00000537463.6:c.726C>A	ENSP00000440294.2:p.Val242=
NM_000138.4:c.4054C>A , LRG_778t1:c.4054C>A	NP_000129.3:p.Pro1352Thr
NM_000138.5:c.4054C>A MANE Select	NP_000129.3:p.Pro1352Thr