Canonical Allele Identifier: CA053505

Gene: FBN1

Linked Data

• dbSNP Id: rs766722922
• ExAC: 15:48760216 C / T
• gnomAD v2: 15-48760216-C-T
• gnomAD v4: 15-48468019-C-T
• MyVariant Identifiers: chr15:g.48760216C>T (hg19) ; chr15:g.48468019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468019C>T , CM000677.2:g.48468019C>T	GRCh38
NC_000015.9:g.48760216C>T , CM000677.1:g.48760216C>T	GRCh37
NC_000015.8:g.46547508C>T	NCBI36
NG_008805.2:g.182770G>A , LRG_778:g.182770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4666G>A	ENSP00000453958.2:p.Gly1556Ser
ENST00000674301.2:c.4666G>A	ENSP00000501333.2:p.Gly1556Ser
ENST00000684448.1:n.3340G>A
ENST00000316623.10:c.4666G>A MANE Select	ENSP00000325527.5:p.Gly1556Ser
ENST00000316623.9:c.4666G>A	ENSP00000325527.5:p.Gly1556Ser
ENST00000537463.6:c.*429G>A	ENSP00000440294.2:n.*429G>A
NM_000138.4:c.4666G>A , LRG_778t1:c.4666G>A	NP_000129.3:p.Gly1556Ser
NM_000138.5:c.4666G>A MANE Select	NP_000129.3:p.Gly1556Ser