Canonical Allele Identifier: CA390643053

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91891334A>T , CM000676.2:g.91891334A>T	GRCh38
NC_000014.8:g.92357678A>T , CM000676.1:g.92357678A>T	GRCh37
NC_000014.7:g.91427431A>T	NCBI36
NG_008254.1:g.61369T>A , LRG_364:g.61369T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006329.4:c.506T>A MANE Select	NP_006320.2:p.Ile169Asn
ENST00000342058.9:c.506T>A MANE Select	ENSP00000345008.4:p.Ile169Asn
NM_001384158.1:c.629T>A	NP_001371087.1:p.Ile210Asn
NM_001384159.1:c.557T>A	NP_001371088.1:p.Ile186Asn
NM_001384160.1:c.506T>A	NP_001371089.1:p.Ile169Asn
NM_001384161.1:c.338T>A	NP_001371090.1:p.Ile113Asn
NM_001384162.1:c.338T>A	NP_001371091.1:p.Ile113Asn
NM_006329.3:c.506T>A , LRG_364t1:c.506T>A	NP_006320.2:p.Ile169Asn
ENST00000267620.14:c.629T>A	ENSP00000267620.10:p.Ile210Asn
ENST00000342058.8:c.506T>A	ENSP00000345008.4:p.Ile169Asn
ENST00000556154.5:c.521T>A	ENSP00000451982.1:p.Ile174Asn
ENST00000557088.6:c.*472T>A	ENSP00000451002.1:n.*472T>A
ENST00000557570.2:c.338T>A	ENSP00000450787.2:p.Ile113Asn
ENST00000706676.1:c.680T>A	ENSP00000516492.1:p.Ile227Asn
ENST00000706677.1:c.506T>A	ENSP00000516493.1:p.Ile169Asn
ENST00000706678.1:n.426T>A
ENST00000706679.1:c.338T>A	ENSP00000516494.1:p.Ile113Asn
ENST00000706680.1:c.*349T>A	ENSP00000516495.1:n.*349T>A
ENST00000706681.1:c.*245T>A	ENSP00000516496.1:n.*245T>A
XM_005267267.3:c.557T>A	XP_005267324.1:p.Ile186Asn
XM_011536356.1:c.557T>A	XP_011534658.1:p.Ile186Asn
XM_011536357.1:c.506T>A	XP_011534659.1:p.Ile169Asn
XM_011536357.2:c.506T>A	XP_011534659.1:p.Ile169Asn
XM_011536358.1:c.338T>A	XP_011534660.1:p.Ile113Asn
XM_011536358.2:c.338T>A	XP_011534660.1:p.Ile113Asn
XM_017020929.2:c.338T>A	XP_016876418.1:p.Ile113Asn