Canonical Allele Identifier: CA390641066

Gene: FBLN5

Linked Data

• dbSNP Id: rs1260529094
• gnomAD v2: 14-92344002-G-T
• gnomAD v3: 14-91877658-G-T
• gnomAD v4: 14-91877658-G-T
• MyVariant Identifiers: chr14:g.92344002G>T (hg19) ; chr14:g.91877658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877658G>T , CM000676.2:g.91877658G>T	GRCh38
NC_000014.8:g.92344002G>T , CM000676.1:g.92344002G>T	GRCh37
NC_000014.7:g.91413755G>T	NCBI36
NG_008254.1:g.75045C>A , LRG_364:g.75045C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*980C>A	ENSP00000451002.1:n.*980C>A
ENST00000557570.2:c.846C>A	ENSP00000450787.2:p.Asn282Lys
ENST00000706675.1:n.829C>A
ENST00000706676.1:c.1188C>A	ENSP00000516492.1:p.Asn396Lys
ENST00000706677.1:c.1014C>A	ENSP00000516493.1:p.Asn338Lys
ENST00000706678.1:n.934C>A
ENST00000706679.1:c.846C>A	ENSP00000516494.1:p.Asn282Lys
ENST00000706680.1:c.*857C>A	ENSP00000516495.1:n.*857C>A
ENST00000706681.1:c.*753C>A	ENSP00000516496.1:n.*753C>A
ENST00000342058.9:c.1014C>A MANE Select	ENSP00000345008.4:p.Asn338Lys
ENST00000267620.14:c.1137C>A	ENSP00000267620.10:p.Asn379Lys
ENST00000342058.8:c.1014C>A	ENSP00000345008.4:p.Asn338Lys
ENST00000554121.2:n.140C>A
ENST00000556154.5:c.1029C>A	ENSP00000451982.1:p.Asn343Lys
NM_006329.3:c.1014C>A , LRG_364t1:c.1014C>A	NP_006320.2:p.Asn338Lys
XM_005267267.3:c.1065C>A	XP_005267324.1:p.Asn355Lys
XM_011536356.1:c.1065C>A	XP_011534658.1:p.Asn355Lys
XM_011536357.1:c.1014C>A	XP_011534659.1:p.Asn338Lys
XM_011536358.1:c.846C>A	XP_011534660.1:p.Asn282Lys
XM_011536357.2:c.1014C>A	XP_011534659.1:p.Asn338Lys
XM_011536358.2:c.846C>A	XP_011534660.1:p.Asn282Lys
XM_017020929.2:c.846C>A	XP_016876418.1:p.Asn282Lys
NM_001384158.1:c.1137C>A	NP_001371087.1:p.Asn379Lys
NM_001384159.1:c.1065C>A	NP_001371088.1:p.Asn355Lys
NM_001384160.1:c.1014C>A	NP_001371089.1:p.Asn338Lys
NM_001384161.1:c.846C>A	NP_001371090.1:p.Asn282Lys
NM_001384162.1:c.846C>A	NP_001371091.1:p.Asn282Lys
NM_006329.4:c.1014C>A MANE Select	NP_006320.2:p.Asn338Lys