Canonical Allele Identifier: CA392352992

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48760206T>G (hg19) ; chr15:g.48468009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468009T>G , CM000677.2:g.48468009T>G	GRCh38
NC_000015.9:g.48760206T>G , CM000677.1:g.48760206T>G	GRCh37
NC_000015.8:g.46547498T>G	NCBI36
NG_008805.2:g.182780A>C , LRG_778:g.182780A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4676A>C	ENSP00000453958.2:p.Lys1559Thr
ENST00000674301.2:c.4676A>C	ENSP00000501333.2:p.Lys1559Thr
ENST00000684448.1:n.3350A>C
ENST00000316623.10:c.4676A>C MANE Select	ENSP00000325527.5:p.Lys1559Thr
ENST00000316623.9:c.4676A>C	ENSP00000325527.5:p.Lys1559Thr
ENST00000537463.6:c.*439A>C	ENSP00000440294.2:n.*439A>C
NM_000138.4:c.4676A>C , LRG_778t1:c.4676A>C	NP_000129.3:p.Lys1559Thr
NM_000138.5:c.4676A>C MANE Select	NP_000129.3:p.Lys1559Thr