Canonical Allele Identifier: CA392338104

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48796019C>A (hg19) ; chr15:g.48503822C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503822C>A , CM000677.2:g.48503822C>A	GRCh38
NC_000015.9:g.48796019C>A , CM000677.1:g.48796019C>A	GRCh37
NC_000015.8:g.46583311C>A	NCBI36
NG_008805.2:g.146967G>T , LRG_778:g.146967G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2078G>T	ENSP00000453958.2:p.Gly693Val
ENST00000674301.2:c.2078G>T	ENSP00000501333.2:p.Gly693Val
ENST00000684448.1:n.752G>T
ENST00000316623.10:c.2078G>T MANE Select	ENSP00000325527.5:p.Gly693Val
ENST00000316623.9:c.2078G>T	ENSP00000325527.5:p.Gly693Val
ENST00000537463.6:c.637-29172G>T	ENSP00000440294.2:n.637-29172G>T
NM_000138.4:c.2078G>T , LRG_778t1:c.2078G>T	NP_000129.3:p.Gly693Val
NM_000138.5:c.2078G>T MANE Select	NP_000129.3:p.Gly693Val