Canonical Allele Identifier: CA390640680

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343915T>G (hg19) ; chr14:g.91877571T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877571T>G , CM000676.2:g.91877571T>G	GRCh38
NC_000014.8:g.92343915T>G , CM000676.1:g.92343915T>G	GRCh37
NC_000014.7:g.91413668T>G	NCBI36
NG_008254.1:g.75132A>C , LRG_364:g.75132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1067A>C	ENSP00000451002.1:n.*1067A>C
ENST00000557570.2:c.933A>C	ENSP00000450787.2:p.Gln311His
ENST00000706675.1:n.916A>C
ENST00000706676.1:c.1275A>C	ENSP00000516492.1:p.Gln425His
ENST00000706677.1:c.1101A>C	ENSP00000516493.1:p.Gln367His
ENST00000706678.1:n.1021A>C
ENST00000706679.1:c.933A>C	ENSP00000516494.1:p.Gln311His
ENST00000706680.1:c.*944A>C	ENSP00000516495.1:n.*944A>C
ENST00000706681.1:c.*840A>C	ENSP00000516496.1:n.*840A>C
ENST00000342058.9:c.1101A>C MANE Select	ENSP00000345008.4:p.Gln367His
ENST00000267620.14:c.1224A>C	ENSP00000267620.10:p.Gln408His
ENST00000342058.8:c.1101A>C	ENSP00000345008.4:p.Gln367His
ENST00000554121.2:n.227A>C
ENST00000556154.5:c.1116A>C	ENSP00000451982.1:p.Gln372His
NM_006329.3:c.1101A>C , LRG_364t1:c.1101A>C	NP_006320.2:p.Gln367His
XM_005267267.3:c.1152A>C	XP_005267324.1:p.Gln384His
XM_011536356.1:c.1152A>C	XP_011534658.1:p.Gln384His
XM_011536357.1:c.1101A>C	XP_011534659.1:p.Gln367His
XM_011536358.1:c.933A>C	XP_011534660.1:p.Gln311His
XM_011536357.2:c.1101A>C	XP_011534659.1:p.Gln367His
XM_011536358.2:c.933A>C	XP_011534660.1:p.Gln311His
XM_017020929.2:c.933A>C	XP_016876418.1:p.Gln311His
NM_001384158.1:c.1224A>C	NP_001371087.1:p.Gln408His
NM_001384159.1:c.1152A>C	NP_001371088.1:p.Gln384His
NM_001384160.1:c.1101A>C	NP_001371089.1:p.Gln367His
NM_001384161.1:c.933A>C	NP_001371090.1:p.Gln311His
NM_001384162.1:c.933A>C	NP_001371091.1:p.Gln311His
NM_006329.4:c.1101A>C MANE Select	NP_006320.2:p.Gln367His