Canonical Allele Identifier: CA7312890

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91937053C>T , CM000676.2:g.91937053C>T	GRCh38
NC_000014.8:g.92403397C>T , CM000676.1:g.92403397C>T	GRCh37
NC_000014.7:g.91473150C>T	NCBI36
NG_008254.1:g.15650G>A , LRG_364:g.15650G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006329.4:c.273G>A MANE Select	NP_006320.2:p.Pro91=
ENST00000342058.9:c.273G>A MANE Select	ENSP00000345008.4:p.Pro91=
NM_001384158.1:c.396G>A	NP_001371087.1:p.Pro132=
NM_001384159.1:c.324G>A	NP_001371088.1:p.Pro108=
NM_001384160.1:c.273G>A	NP_001371089.1:p.Pro91=
NM_001384161.1:c.105G>A	NP_001371090.1:p.Pro35=
NM_001384162.1:c.105G>A	NP_001371091.1:p.Pro35=
NM_006329.3:c.273G>A , LRG_364t1:c.273G>A	NP_006320.2:p.Pro91=
ENST00000267620.14:c.396G>A	ENSP00000267620.10:p.Pro132=
ENST00000342058.8:c.273G>A	ENSP00000345008.4:p.Pro91=
ENST00000554468.5:c.273G>A	ENSP00000451486.1:p.Pro91=
ENST00000556154.5:c.288G>A	ENSP00000451982.1:p.Pro96=
ENST00000557088.5:c.*239G>A	ENSP00000451002.1:n.*239G>A
ENST00000557088.6:c.*239G>A	ENSP00000451002.1:n.*239G>A
ENST00000557462.5:n.519G>A
ENST00000557570.2:c.105G>A	ENSP00000450787.2:p.Pro35=
ENST00000706676.1:c.447G>A	ENSP00000516492.1:p.Pro149=
ENST00000706677.1:c.273G>A	ENSP00000516493.1:p.Pro91=
ENST00000706679.1:c.105G>A	ENSP00000516494.1:p.Pro35=
ENST00000706680.1:c.*239G>A	ENSP00000516495.1:n.*239G>A
ENST00000706681.1:c.*118+79G>A	ENSP00000516496.1:n.*118+79G>A
XM_005267267.3:c.324G>A	XP_005267324.1:p.Pro108=
XM_011536356.1:c.324G>A	XP_011534658.1:p.Pro108=
XM_011536357.1:c.273G>A	XP_011534659.1:p.Pro91=
XM_011536357.2:c.273G>A	XP_011534659.1:p.Pro91=
XM_011536358.1:c.105G>A	XP_011534660.1:p.Pro35=
XM_011536358.2:c.105G>A	XP_011534660.1:p.Pro35=
XM_017020929.2:c.105G>A	XP_016876418.1:p.Pro35=