Canonical Allele Identifier: CA213140

Gene: FBLN5

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91937067G>A , CM000676.2:g.91937067G>A	GRCh38
NC_000014.8:g.92403411G>A , CM000676.1:g.92403411G>A	GRCh37
NC_000014.7:g.91473164G>A	NCBI36
NG_008254.1:g.15636C>T , LRG_364:g.15636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*225C>T	ENSP00000451002.1:n.*225C>T
ENST00000557570.2:c.91C>T	ENSP00000450787.2:p.Pro31Ser
ENST00000706676.1:c.433C>T	ENSP00000516492.1:p.Pro145Ser
ENST00000706677.1:c.259C>T	ENSP00000516493.1:p.Pro87Ser
ENST00000706679.1:c.91C>T	ENSP00000516494.1:p.Pro31Ser
ENST00000706680.1:c.*225C>T	ENSP00000516495.1:n.*225C>T
ENST00000706681.1:c.*118+65C>T	ENSP00000516496.1:n.*118+65C>T
ENST00000342058.9:c.259C>T MANE Select	ENSP00000345008.4:p.Pro87Ser
ENST00000267620.14:c.382C>T	ENSP00000267620.10:p.Pro128Ser
ENST00000342058.8:c.259C>T	ENSP00000345008.4:p.Pro87Ser
ENST00000554468.5:c.259C>T	ENSP00000451486.1:p.Pro87Ser
ENST00000556154.5:c.274C>T	ENSP00000451982.1:p.Pro92Ser
ENST00000557088.5:c.*225C>T	ENSP00000451002.1:n.*225C>T
ENST00000557462.5:n.505C>T
NM_006329.3:c.259C>T , LRG_364t1:c.259C>T	NP_006320.2:p.Pro87Ser
XM_005267267.3:c.310C>T	XP_005267324.1:p.Pro104Ser
XM_011536356.1:c.310C>T	XP_011534658.1:p.Pro104Ser
XM_011536357.1:c.259C>T	XP_011534659.1:p.Pro87Ser
XM_011536358.1:c.91C>T	XP_011534660.1:p.Pro31Ser
XM_011536357.2:c.259C>T	XP_011534659.1:p.Pro87Ser
XM_011536358.2:c.91C>T	XP_011534660.1:p.Pro31Ser
XM_017020929.2:c.91C>T	XP_016876418.1:p.Pro31Ser
NM_001384158.1:c.382C>T	NP_001371087.1:p.Pro128Ser
NM_001384159.1:c.310C>T	NP_001371088.1:p.Pro104Ser
NM_001384160.1:c.259C>T	NP_001371089.1:p.Pro87Ser
NM_001384161.1:c.91C>T	NP_001371090.1:p.Pro31Ser
NM_001384162.1:c.91C>T	NP_001371091.1:p.Pro31Ser
NM_006329.4:c.259C>T MANE Select	NP_006320.2:p.Pro87Ser