Canonical Allele Identifier: CA392335291

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48726900T>G (hg19) ; chr15:g.48434703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434703T>G , CM000677.2:g.48434703T>G	GRCh38
NC_000015.9:g.48726900T>G , CM000677.1:g.48726900T>G	GRCh37
NC_000015.8:g.46514192T>G	NCBI36
NG_008805.2:g.216086A>C , LRG_778:g.216086A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6507A>C	ENSP00000453958.2:p.Glu2169Asp
ENST00000674301.2:c.6507A>C	ENSP00000501333.2:p.Glu2169Asp
ENST00000682170.1:n.116A>C
ENST00000316623.10:c.6507A>C MANE Select	ENSP00000325527.5:p.Glu2169Asp
ENST00000674301.1:c.1506A>C	ENSP00000501333.1:p.Glu502Asp
ENST00000316623.9:c.6507A>C	ENSP00000325527.5:p.Glu2169Asp
ENST00000537463.6:c.*2270A>C	ENSP00000440294.2:n.*2270A>C
ENST00000559133.5:c.1814A>C
NM_000138.4:c.6507A>C , LRG_778t1:c.6507A>C	NP_000129.3:p.Glu2169Asp
NM_000138.5:c.6507A>C MANE Select	NP_000129.3:p.Glu2169Asp