Canonical Allele Identifier: CA487566589

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343840A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877496A>G , CM000676.2:g.91877496A>G	GRCh38
NC_000014.8:g.92343840A>G , CM000676.1:g.92343840A>G	GRCh37
NC_000014.7:g.91413593A>G	NCBI36
NG_008254.1:g.75207T>C , LRG_364:g.75207T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*1142T>C	ENSP00000451002.1:n.*1142T>C
ENST00000557570.2:c.1008T>C	ENSP00000450787.2:p.Phe336=
ENST00000706675.1:n.991T>C
ENST00000706676.1:c.1350T>C	ENSP00000516492.1:p.Phe450=
ENST00000706677.1:c.1176T>C	ENSP00000516493.1:p.Phe392=
ENST00000706678.1:n.1096T>C
ENST00000706679.1:c.1008T>C	ENSP00000516494.1:p.Phe336=
ENST00000706680.1:c.*1019T>C	ENSP00000516495.1:n.*1019T>C
ENST00000706681.1:c.*915T>C	ENSP00000516496.1:n.*915T>C
ENST00000342058.9:c.1176T>C MANE Select	ENSP00000345008.4:p.Phe392=
ENST00000267620.14:c.1299T>C	ENSP00000267620.10:p.Phe433=
ENST00000342058.8:c.1176T>C	ENSP00000345008.4:p.Phe392=
ENST00000554121.2:n.302T>C
ENST00000556154.5:c.1191T>C	ENSP00000451982.1:p.Phe397=
NM_006329.3:c.1176T>C , LRG_364t1:c.1176T>C	NP_006320.2:p.Phe392=
XM_005267267.3:c.1227T>C	XP_005267324.1:p.Phe409=
XM_011536356.1:c.1227T>C	XP_011534658.1:p.Phe409=
XM_011536357.1:c.1176T>C	XP_011534659.1:p.Phe392=
XM_011536358.1:c.1008T>C	XP_011534660.1:p.Phe336=
XM_011536357.2:c.1176T>C	XP_011534659.1:p.Phe392=
XM_011536358.2:c.1008T>C	XP_011534660.1:p.Phe336=
XM_017020929.2:c.1008T>C	XP_016876418.1:p.Phe336=
NM_001384158.1:c.1299T>C	NP_001371087.1:p.Phe433=
NM_001384159.1:c.1227T>C	NP_001371088.1:p.Phe409=
NM_001384160.1:c.1176T>C	NP_001371089.1:p.Phe392=
NM_001384161.1:c.1008T>C	NP_001371090.1:p.Phe336=
NM_001384162.1:c.1008T>C	NP_001371091.1:p.Phe336=
NM_006329.4:c.1176T>C MANE Select	NP_006320.2:p.Phe392=