Canonical Allele Identifier: CA490022218

Gene: FBN1

Linked Data

• COSMIC: COSM5448746
• MyVariant Identifiers: chr15:g.48737574C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445377C>A , CM000677.2:g.48445377C>A	GRCh38
NC_000015.9:g.48737574C>A , CM000677.1:g.48737574C>A	GRCh37
NC_000015.8:g.46524866C>A	NCBI36
NG_008805.2:g.205412G>T , LRG_778:g.205412G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5916G>T	ENSP00000453958.2:p.Val1972=
ENST00000674301.2:c.5916G>T	ENSP00000501333.2:p.Val1972=
ENST00000684448.1:n.4590G>T
ENST00000316623.10:c.5916G>T MANE Select	ENSP00000325527.5:p.Val1972=
ENST00000674301.1:c.915G>T	ENSP00000501333.1:p.Val305=
ENST00000316623.9:c.5916G>T	ENSP00000325527.5:p.Val1972=
ENST00000537463.6:c.*1679G>T	ENSP00000440294.2:n.*1679G>T
ENST00000559133.5:c.1223G>T
ENST00000560820.1:n.36G>T
NM_000138.4:c.5916G>T , LRG_778t1:c.5916G>T	NP_000129.3:p.Val1972=
NM_000138.5:c.5916G>T MANE Select	NP_000129.3:p.Val1972=