Canonical Allele Identifier: CA7312801

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91891267T>C , CM000676.2:g.91891267T>C	GRCh38
NC_000014.8:g.92357611T>C , CM000676.1:g.92357611T>C	GRCh37
NC_000014.7:g.91427364T>C	NCBI36
NG_008254.1:g.61436A>G , LRG_364:g.61436A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006329.4:c.573A>G MANE Select	NP_006320.2:p.Thr191=
ENST00000342058.9:c.573A>G MANE Select	ENSP00000345008.4:p.Thr191=
NM_001384158.1:c.696A>G	NP_001371087.1:p.Thr232=
NM_001384159.1:c.624A>G	NP_001371088.1:p.Thr208=
NM_001384160.1:c.573A>G	NP_001371089.1:p.Thr191=
NM_001384161.1:c.405A>G	NP_001371090.1:p.Thr135=
NM_001384162.1:c.405A>G	NP_001371091.1:p.Thr135=
NM_006329.3:c.573A>G , LRG_364t1:c.573A>G	NP_006320.2:p.Thr191=
ENST00000267620.14:c.696A>G	ENSP00000267620.10:p.Thr232=
ENST00000342058.8:c.573A>G	ENSP00000345008.4:p.Thr191=
ENST00000556154.5:c.588A>G	ENSP00000451982.1:p.Thr196=
ENST00000557088.6:c.*539A>G	ENSP00000451002.1:n.*539A>G
ENST00000557570.2:c.405A>G	ENSP00000450787.2:p.Thr135=
ENST00000706676.1:c.747A>G	ENSP00000516492.1:p.Thr249=
ENST00000706677.1:c.573A>G	ENSP00000516493.1:p.Thr191=
ENST00000706678.1:n.493A>G
ENST00000706679.1:c.405A>G	ENSP00000516494.1:p.Thr135=
ENST00000706680.1:c.*416A>G	ENSP00000516495.1:n.*416A>G
ENST00000706681.1:c.*312A>G	ENSP00000516496.1:n.*312A>G
XM_005267267.3:c.624A>G	XP_005267324.1:p.Thr208=
XM_011536356.1:c.624A>G	XP_011534658.1:p.Thr208=
XM_011536357.1:c.573A>G	XP_011534659.1:p.Thr191=
XM_011536357.2:c.573A>G	XP_011534659.1:p.Thr191=
XM_011536358.1:c.405A>G	XP_011534660.1:p.Thr135=
XM_011536358.2:c.405A>G	XP_011534660.1:p.Thr135=
XM_017020929.2:c.405A>G	XP_016876418.1:p.Thr135=