Canonical Allele Identifier: CA392337127

Gene: FBN1

Linked Data

• gnomAD v4: 15-48437869-G-T
• MyVariant Identifiers: chr15:g.48730066G>T (hg19) ; chr15:g.48437869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437869G>T , CM000677.2:g.48437869G>T	GRCh38
NC_000015.9:g.48730066G>T , CM000677.1:g.48730066G>T	GRCh37
NC_000015.8:g.46517358G>T	NCBI36
NG_008805.2:g.212920C>A , LRG_778:g.212920C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6212C>A	ENSP00000453958.2:p.Ser2071Ter
ENST00000674301.2:c.6212C>A	ENSP00000501333.2:p.Ser2071Ter
ENST00000316623.10:c.6212C>A MANE Select	ENSP00000325527.5:p.Ser2071Ter
ENST00000674301.1:c.1211C>A	ENSP00000501333.1:p.Ser404Ter
ENST00000316623.9:c.6212C>A	ENSP00000325527.5:p.Ser2071Ter
ENST00000537463.6:c.*1975C>A	ENSP00000440294.2:n.*1975C>A
ENST00000559133.5:c.1519C>A
ENST00000560820.1:n.332C>A
NM_000138.4:c.6212C>A , LRG_778t1:c.6212C>A	NP_000129.3:p.Ser2071Ter
NM_000138.5:c.6212C>A MANE Select	NP_000129.3:p.Ser2071Ter