Canonical Allele Identifier: CA392338947

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48797220A>T (hg19) ; chr15:g.48505023A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48505023A>T , CM000677.2:g.48505023A>T	GRCh38
NC_000015.9:g.48797220A>T , CM000677.1:g.48797220A>T	GRCh37
NC_000015.8:g.46584512A>T	NCBI36
NG_008805.2:g.145766T>A , LRG_778:g.145766T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1960+2T>A	ENSP00000453958.2:n.1960+2T>A
ENST00000674301.2:c.1960+2T>A	ENSP00000501333.2:n.1960+2T>A
ENST00000684448.1:n.634+2T>A
ENST00000316623.10:c.1960+2T>A MANE Select	ENSP00000325527.5:n.1960+2T>A
ENST00000316623.9:c.1960+2T>A	ENSP00000325527.5:n.1960+2T>A
ENST00000537463.6:c.637-30373T>A	ENSP00000440294.2:n.637-30373T>A
NM_000138.4:c.1960+2T>A , LRG_778t1:c.1960+2T>A	NP_000129.3:n.1960+2T>A
NM_000138.5:c.1960+2T>A MANE Select	NP_000129.3:n.1960+2T>A