Canonical Allele Identifier: CA392335118

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48726875T>C (hg19) ; chr15:g.48434678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434678T>C , CM000677.2:g.48434678T>C	GRCh38
NC_000015.9:g.48726875T>C , CM000677.1:g.48726875T>C	GRCh37
NC_000015.8:g.46514167T>C	NCBI36
NG_008805.2:g.216111A>G , LRG_778:g.216111A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6532A>G	ENSP00000453958.2:p.Asn2178Asp
ENST00000674301.2:c.6532A>G	ENSP00000501333.2:p.Asn2178Asp
ENST00000682170.1:n.141A>G
ENST00000316623.10:c.6532A>G MANE Select	ENSP00000325527.5:p.Asn2178Asp
ENST00000674301.1:c.1531A>G	ENSP00000501333.1:p.Asn511Asp
ENST00000316623.9:c.6532A>G	ENSP00000325527.5:p.Asn2178Asp
ENST00000537463.6:c.*2295A>G	ENSP00000440294.2:n.*2295A>G
ENST00000559133.5:c.1839A>G
NM_000138.4:c.6532A>G , LRG_778t1:c.6532A>G	NP_000129.3:p.Asn2178Asp
NM_000138.5:c.6532A>G MANE Select	NP_000129.3:p.Asn2178Asp