Canonical Allele Identifier: CA053229

Gene: FBN1

Linked Data

• dbSNP Id: rs774767316
• ExAC: 15:48760647 G / C
• gnomAD v2: 15-48760647-G-C
• gnomAD v4: 15-48468450-G-C
• MyVariant Identifiers: chr15:g.48760647G>C (hg19) ; chr15:g.48468450G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468450G>C , CM000677.2:g.48468450G>C	GRCh38
NC_000015.9:g.48760647G>C , CM000677.1:g.48760647G>C	GRCh37
NC_000015.8:g.46547939G>C	NCBI36
NG_008805.2:g.182339C>G , LRG_778:g.182339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4544C>G	ENSP00000453958.2:p.Pro1515Arg
ENST00000674301.2:c.4544C>G	ENSP00000501333.2:p.Pro1515Arg
ENST00000684448.1:n.3218C>G
ENST00000316623.10:c.4544C>G MANE Select	ENSP00000325527.5:p.Pro1515Arg
ENST00000316623.9:c.4544C>G	ENSP00000325527.5:p.Pro1515Arg
ENST00000537463.6:c.*307C>G	ENSP00000440294.2:n.*307C>G
NM_000138.4:c.4544C>G , LRG_778t1:c.4544C>G	NP_000129.3:p.Pro1515Arg
NM_000138.5:c.4544C>G MANE Select	NP_000129.3:p.Pro1515Arg