Canonical Allele Identifier: CA392453427

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48936807T>A (hg19) ; chr15:g.48644610T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48644610T>A , CM000677.2:g.48644610T>A	GRCh38
NC_000015.9:g.48936807T>A , CM000677.1:g.48936807T>A	GRCh37
NC_000015.8:g.46724099T>A	NCBI36
NG_008805.2:g.6179A>T , LRG_778:g.6179A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.160A>T	ENSP00000453958.2:p.Lys54Ter
ENST00000674301.2:c.160A>T	ENSP00000501333.2:p.Lys54Ter
ENST00000316623.10:c.160A>T MANE Select	ENSP00000325527.5:p.Lys54Ter
ENST00000316623.9:c.160A>T	ENSP00000325527.5:p.Lys54Ter
ENST00000537463.6:c.160A>T	ENSP00000440294.2:p.Lys54Ter
ENST00000558230.1:n.223A>T
ENST00000560355.1:c.160A>T	ENSP00000453901.1:p.Lys54Ter
NM_000138.4:c.160A>T , LRG_778t1:c.160A>T	NP_000129.3:p.Lys54Ter
NM_000138.5:c.160A>T MANE Select	NP_000129.3:p.Lys54Ter