Canonical Allele Identifier: CA2155139362

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877535G= , CM000676.2:g.91877535G=	GRCh38
NC_000014.8:g.92343879G= , CM000676.1:g.92343879G=	GRCh37
NC_000014.7:g.91413632G=	NCBI36
NG_008254.1:g.75168C= , LRG_364:g.75168C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1103C=	ENSP00000451002.1:n.*1103C=
ENST00000557570.2:c.969C=	ENSP00000450787.2:p.Tyr323=
ENST00000706675.1:n.952C=
ENST00000706676.1:c.1311C=	ENSP00000516492.1:p.Tyr437=
ENST00000706677.1:c.1137C=	ENSP00000516493.1:p.Tyr379=
ENST00000706678.1:n.1057C=
ENST00000706679.1:c.969C=	ENSP00000516494.1:p.Tyr323=
ENST00000706680.1:c.*980C=	ENSP00000516495.1:n.*980C=
ENST00000706681.1:c.*876C=	ENSP00000516496.1:n.*876C=
ENST00000342058.9:c.1137C= MANE Select	ENSP00000345008.4:p.Tyr379=
ENST00000267620.14:c.1260C=	ENSP00000267620.10:p.Tyr420=
ENST00000342058.8:c.1137C=	ENSP00000345008.4:p.Tyr379=
ENST00000554121.2:n.263C=
ENST00000556154.5:c.1152C=	ENSP00000451982.1:p.Tyr384=
NM_006329.3:c.1137C= , LRG_364t1:c.1137C=	NP_006320.2:p.Tyr379=
XM_005267267.3:c.1188C=	XP_005267324.1:p.Tyr396=
XM_011536356.1:c.1188C=	XP_011534658.1:p.Tyr396=
XM_011536357.1:c.1137C=	XP_011534659.1:p.Tyr379=
XM_011536358.1:c.969C=	XP_011534660.1:p.Tyr323=
XM_011536357.2:c.1137C=	XP_011534659.1:p.Tyr379=
XM_011536358.2:c.969C=	XP_011534660.1:p.Tyr323=
XM_017020929.2:c.969C=	XP_016876418.1:p.Tyr323=
NM_001384158.1:c.1260C=	NP_001371087.1:p.Tyr420=
NM_001384159.1:c.1188C=	NP_001371088.1:p.Tyr396=
NM_001384160.1:c.1137C=	NP_001371089.1:p.Tyr379=
NM_001384161.1:c.969C=	NP_001371090.1:p.Tyr323=
NM_001384162.1:c.969C=	NP_001371091.1:p.Tyr323=
NM_006329.4:c.1137C= MANE Select	NP_006320.2:p.Tyr379=