Canonical Allele Identifier: CA392324083

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48776111T>G (hg19) ; chr15:g.48483914T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483914T>G , CM000677.2:g.48483914T>G	GRCh38
NC_000015.9:g.48776111T>G , CM000677.1:g.48776111T>G	GRCh37
NC_000015.8:g.46563403T>G	NCBI36
NG_008805.2:g.166875A>C , LRG_778:g.166875A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3742A>C	ENSP00000453958.2:p.Ile1248Leu
ENST00000674301.2:c.3742A>C	ENSP00000501333.2:p.Ile1248Leu
ENST00000684448.1:n.2416A>C
ENST00000316623.10:c.3742A>C MANE Select	ENSP00000325527.5:p.Ile1248Leu
ENST00000316623.9:c.3742A>C	ENSP00000325527.5:p.Ile1248Leu
ENST00000537463.6:c.637-9264A>C	ENSP00000440294.2:n.637-9264A>C
NM_000138.4:c.3742A>C , LRG_778t1:c.3742A>C	NP_000129.3:p.Ile1248Leu
NM_000138.5:c.3742A>C MANE Select	NP_000129.3:p.Ile1248Leu