Canonical Allele Identifier: CA390640502

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343869T>A (hg19) ; chr14:g.91877525T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877525T>A , CM000676.2:g.91877525T>A	GRCh38
NC_000014.8:g.92343869T>A , CM000676.1:g.92343869T>A	GRCh37
NC_000014.7:g.91413622T>A	NCBI36
NG_008254.1:g.75178A>T , LRG_364:g.75178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1113A>T	ENSP00000451002.1:n.*1113A>T
ENST00000557570.2:c.979A>T	ENSP00000450787.2:p.Ile327Phe
ENST00000706675.1:n.962A>T
ENST00000706676.1:c.1321A>T	ENSP00000516492.1:p.Ile441Phe
ENST00000706677.1:c.1147A>T	ENSP00000516493.1:p.Ile383Phe
ENST00000706678.1:n.1067A>T
ENST00000706679.1:c.979A>T	ENSP00000516494.1:p.Ile327Phe
ENST00000706680.1:c.*990A>T	ENSP00000516495.1:n.*990A>T
ENST00000706681.1:c.*886A>T	ENSP00000516496.1:n.*886A>T
ENST00000342058.9:c.1147A>T MANE Select	ENSP00000345008.4:p.Ile383Phe
ENST00000267620.14:c.1270A>T	ENSP00000267620.10:p.Ile424Phe
ENST00000342058.8:c.1147A>T	ENSP00000345008.4:p.Ile383Phe
ENST00000554121.2:n.273A>T
ENST00000556154.5:c.1162A>T	ENSP00000451982.1:p.Ile388Phe
NM_006329.3:c.1147A>T , LRG_364t1:c.1147A>T	NP_006320.2:p.Ile383Phe
XM_005267267.3:c.1198A>T	XP_005267324.1:p.Ile400Phe
XM_011536356.1:c.1198A>T	XP_011534658.1:p.Ile400Phe
XM_011536357.1:c.1147A>T	XP_011534659.1:p.Ile383Phe
XM_011536358.1:c.979A>T	XP_011534660.1:p.Ile327Phe
XM_011536357.2:c.1147A>T	XP_011534659.1:p.Ile383Phe
XM_011536358.2:c.979A>T	XP_011534660.1:p.Ile327Phe
XM_017020929.2:c.979A>T	XP_016876418.1:p.Ile327Phe
NM_001384158.1:c.1270A>T	NP_001371087.1:p.Ile424Phe
NM_001384159.1:c.1198A>T	NP_001371088.1:p.Ile400Phe
NM_001384160.1:c.1147A>T	NP_001371089.1:p.Ile383Phe
NM_001384161.1:c.979A>T	NP_001371090.1:p.Ile327Phe
NM_001384162.1:c.979A>T	NP_001371091.1:p.Ile327Phe
NM_006329.4:c.1147A>T MANE Select	NP_006320.2:p.Ile383Phe