Canonical Allele Identifier: CA392349983

Gene: FBN1

Linked Data

• gnomAD v4: 15-48463953-T-A
• MyVariant Identifiers: chr15:g.48756150T>A (hg19) ; chr15:g.48463953T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463953T>A , CM000677.2:g.48463953T>A	GRCh38
NC_000015.9:g.48756150T>A , CM000677.1:g.48756150T>A	GRCh37
NC_000015.8:g.46543442T>A	NCBI36
NG_008805.2:g.186836A>T , LRG_778:g.186836A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5011A>T	ENSP00000453958.2:p.Thr1671Ser
ENST00000674301.2:c.5011A>T	ENSP00000501333.2:p.Thr1671Ser
ENST00000684448.1:n.3685A>T
ENST00000316623.10:c.5011A>T MANE Select	ENSP00000325527.5:p.Thr1671Ser
ENST00000674301.1:c.10A>T	ENSP00000501333.1:p.Thr4Ser
ENST00000316623.9:c.5011A>T	ENSP00000325527.5:p.Thr1671Ser
ENST00000537463.6:c.*774A>T	ENSP00000440294.2:n.*774A>T
ENST00000559133.5:c.318A>T
NM_000138.4:c.5011A>T , LRG_778t1:c.5011A>T	NP_000129.3:p.Thr1671Ser
NM_000138.5:c.5011A>T MANE Select	NP_000129.3:p.Thr1671Ser