Canonical Allele Identifier: CA392325918

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714191T>G (hg19) ; chr15:g.48421994T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421994T>G , CM000677.2:g.48421994T>G	GRCh38
NC_000015.9:g.48714191T>G , CM000677.1:g.48714191T>G	GRCh37
NC_000015.8:g.46501483T>G	NCBI36
NG_008805.2:g.228795A>C , LRG_778:g.228795A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*336A>C	ENSP00000453958.2:n.*336A>C
ENST00000674301.2:c.*1041A>C	ENSP00000501333.2:n.*1041A>C
ENST00000682170.1:n.1709A>C
ENST00000682767.1:n.825A>C
ENST00000316623.10:c.7528A>C MANE Select	ENSP00000325527.5:p.Lys2510Gln
ENST00000674301.1:c.2694A>C	ENSP00000501333.1:n.2694A>C
ENST00000316623.9:c.7528A>C	ENSP00000325527.5:p.Lys2510Gln
ENST00000559133.5:c.2897A>C
NM_000138.4:c.7528A>C , LRG_778t1:c.7528A>C	NP_000129.3:p.Lys2510Gln
NM_000138.5:c.7528A>C MANE Select	NP_000129.3:p.Lys2510Gln