Canonical Allele Identifier: CA392353561

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48760668C>G (hg19) ; chr15:g.48468471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468471C>G , CM000677.2:g.48468471C>G	GRCh38
NC_000015.9:g.48760668C>G , CM000677.1:g.48760668C>G	GRCh37
NC_000015.8:g.46547960C>G	NCBI36
NG_008805.2:g.182318G>C , LRG_778:g.182318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4523G>C	ENSP00000453958.2:p.Ser1508Thr
ENST00000674301.2:c.4523G>C	ENSP00000501333.2:p.Ser1508Thr
ENST00000684448.1:n.3197G>C
ENST00000316623.10:c.4523G>C MANE Select	ENSP00000325527.5:p.Ser1508Thr
ENST00000316623.9:c.4523G>C	ENSP00000325527.5:p.Ser1508Thr
ENST00000537463.6:c.*286G>C	ENSP00000440294.2:n.*286G>C
NM_000138.4:c.4523G>C , LRG_778t1:c.4523G>C	NP_000129.3:p.Ser1508Thr
NM_000138.5:c.4523G>C MANE Select	NP_000129.3:p.Ser1508Thr