Canonical Allele Identifier: CA7312763

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 1649985
• ClinVar RCV Id: RCV002163327 ; RCV003960874
• dbSNP Id: rs771180076
• ExAC: 14:92353601 G / A
• gnomAD v2: 14-92353601-G-A
• gnomAD v3: 14-91887257-G-A
• gnomAD v4: 14-91887257-G-A
• MyVariant Identifiers: chr14:g.92353601G>A (hg19) ; chr14:g.91887257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887257G>A , CM000676.2:g.91887257G>A	GRCh38
NC_000014.8:g.92353601G>A , CM000676.1:g.92353601G>A	GRCh37
NC_000014.7:g.91423354G>A	NCBI36
NG_008254.1:g.65446C>T , LRG_364:g.65446C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*641C>T	ENSP00000451002.1:n.*641C>T
ENST00000557570.2:c.507C>T	ENSP00000450787.2:p.Tyr169=
ENST00000706676.1:c.849C>T	ENSP00000516492.1:p.Tyr283=
ENST00000706677.1:c.675C>T	ENSP00000516493.1:p.Tyr225=
ENST00000706678.1:n.595C>T
ENST00000706679.1:c.507C>T	ENSP00000516494.1:p.Tyr169=
ENST00000706680.1:c.*518C>T	ENSP00000516495.1:n.*518C>T
ENST00000706681.1:c.*414C>T	ENSP00000516496.1:n.*414C>T
ENST00000342058.9:c.675C>T MANE Select	ENSP00000345008.4:p.Tyr225=
ENST00000267620.14:c.798C>T	ENSP00000267620.10:p.Tyr266=
ENST00000342058.8:c.675C>T	ENSP00000345008.4:p.Tyr225=
ENST00000556154.5:c.690C>T	ENSP00000451982.1:p.Tyr230=
NM_006329.3:c.675C>T , LRG_364t1:c.675C>T	NP_006320.2:p.Tyr225=
XM_005267267.3:c.726C>T	XP_005267324.1:p.Tyr242=
XM_011536356.1:c.726C>T	XP_011534658.1:p.Tyr242=
XM_011536357.1:c.675C>T	XP_011534659.1:p.Tyr225=
XM_011536358.1:c.507C>T	XP_011534660.1:p.Tyr169=
XM_011536357.2:c.675C>T	XP_011534659.1:p.Tyr225=
XM_011536358.2:c.507C>T	XP_011534660.1:p.Tyr169=
XM_017020929.2:c.507C>T	XP_016876418.1:p.Tyr169=
NM_001384158.1:c.798C>T	NP_001371087.1:p.Tyr266=
NM_001384159.1:c.726C>T	NP_001371088.1:p.Tyr242=
NM_001384160.1:c.675C>T	NP_001371089.1:p.Tyr225=
NM_001384161.1:c.507C>T	NP_001371090.1:p.Tyr169=
NM_001384162.1:c.507C>T	NP_001371091.1:p.Tyr169=
NM_006329.4:c.675C>T MANE Select	NP_006320.2:p.Tyr225=