Canonical Allele Identifier: CA055517

Gene: FBN1

Linked Data

• dbSNP Id: rs755073529
• ExAC: 15:48738906 T / C
• gnomAD v2: 15-48738906-T-C
• gnomAD v4: 15-48446709-T-C
• MyVariant Identifiers: chr15:g.48738906T>C (hg19) ; chr15:g.48446709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446709T>C , CM000677.2:g.48446709T>C	GRCh38
NC_000015.9:g.48738906T>C , CM000677.1:g.48738906T>C	GRCh37
NC_000015.8:g.46526198T>C	NCBI36
NG_008805.2:g.204080A>G , LRG_778:g.204080A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5785A>G	ENSP00000453958.2:p.Ile1929Val
ENST00000674301.2:c.5785A>G	ENSP00000501333.2:p.Ile1929Val
ENST00000684448.1:n.4459A>G
ENST00000316623.10:c.5785A>G MANE Select	ENSP00000325527.5:p.Ile1929Val
ENST00000674301.1:c.784A>G	ENSP00000501333.1:p.Ile262Val
ENST00000316623.9:c.5785A>G	ENSP00000325527.5:p.Ile1929Val
ENST00000537463.6:c.*1548A>G	ENSP00000440294.2:n.*1548A>G
ENST00000559133.5:c.1092A>G
NM_000138.4:c.5785A>G , LRG_778t1:c.5785A>G	NP_000129.3:p.Ile1929Val
NM_000138.5:c.5785A>G MANE Select	NP_000129.3:p.Ile1929Val