Canonical Allele Identifier: CA265594118

Gene: FBLN5

Linked Data

• dbSNP Id: rs369321094
• MyVariant Identifiers: chr14:g.92343907G>A (hg19) ; chr14:g.91877563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877563G>A , CM000676.2:g.91877563G>A	GRCh38
NC_000014.8:g.92343907G>A , CM000676.1:g.92343907G>A	GRCh37
NC_000014.7:g.91413660G>A	NCBI36
NG_008254.1:g.75140C>T , LRG_364:g.75140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1075C>T	ENSP00000451002.1:n.*1075C>T
ENST00000557570.2:c.941C>T	ENSP00000450787.2:p.Ala314Val
ENST00000706675.1:n.924C>T
ENST00000706676.1:c.1283C>T	ENSP00000516492.1:p.Ala428Val
ENST00000706677.1:c.1109C>T	ENSP00000516493.1:p.Ala370Val
ENST00000706678.1:n.1029C>T
ENST00000706679.1:c.941C>T	ENSP00000516494.1:p.Ala314Val
ENST00000706680.1:c.*952C>T	ENSP00000516495.1:n.*952C>T
ENST00000706681.1:c.*848C>T	ENSP00000516496.1:n.*848C>T
ENST00000342058.9:c.1109C>T MANE Select	ENSP00000345008.4:p.Ala370Val
ENST00000267620.14:c.1232C>T	ENSP00000267620.10:p.Ala411Val
ENST00000342058.8:c.1109C>T	ENSP00000345008.4:p.Ala370Val
ENST00000554121.2:n.235C>T
ENST00000556154.5:c.1124C>T	ENSP00000451982.1:p.Ala375Val
NM_006329.3:c.1109C>T , LRG_364t1:c.1109C>T	NP_006320.2:p.Ala370Val
XM_005267267.3:c.1160C>T	XP_005267324.1:p.Ala387Val
XM_011536356.1:c.1160C>T	XP_011534658.1:p.Ala387Val
XM_011536357.1:c.1109C>T	XP_011534659.1:p.Ala370Val
XM_011536358.1:c.941C>T	XP_011534660.1:p.Ala314Val
XM_011536357.2:c.1109C>T	XP_011534659.1:p.Ala370Val
XM_011536358.2:c.941C>T	XP_011534660.1:p.Ala314Val
XM_017020929.2:c.941C>T	XP_016876418.1:p.Ala314Val
NM_001384158.1:c.1232C>T	NP_001371087.1:p.Ala411Val
NM_001384159.1:c.1160C>T	NP_001371088.1:p.Ala387Val
NM_001384160.1:c.1109C>T	NP_001371089.1:p.Ala370Val
NM_001384161.1:c.941C>T	NP_001371090.1:p.Ala314Val
NM_001384162.1:c.941C>T	NP_001371091.1:p.Ala314Val
NM_006329.4:c.1109C>T MANE Select	NP_006320.2:p.Ala370Val