Canonical Allele Identifier: CA390640402

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343829A>G (hg19) ; chr14:g.91877485A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877485A>G , CM000676.2:g.91877485A>G	GRCh38
NC_000014.8:g.92343829A>G , CM000676.1:g.92343829A>G	GRCh37
NC_000014.7:g.91413582A>G	NCBI36
NG_008254.1:g.75218T>C , LRG_364:g.75218T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*1151+2T>C	ENSP00000451002.1:n.*1151+2T>C
ENST00000557570.2:c.1017+2T>C	ENSP00000450787.2:n.1017+2T>C
ENST00000706675.1:n.1000+2T>C
ENST00000706676.1:c.1359+2T>C	ENSP00000516492.1:n.1359+2T>C
ENST00000706677.1:c.1185+2T>C	ENSP00000516493.1:n.1185+2T>C
ENST00000706678.1:n.1105+2T>C
ENST00000706679.1:c.1017+2T>C	ENSP00000516494.1:n.1017+2T>C
ENST00000706680.1:c.*1028+2T>C	ENSP00000516495.1:n.*1028+2T>C
ENST00000706681.1:c.*924+2T>C	ENSP00000516496.1:n.*924+2T>C
ENST00000342058.9:c.1185+2T>C MANE Select	ENSP00000345008.4:n.1185+2T>C
ENST00000267620.14:c.1308+2T>C	ENSP00000267620.10:n.1308+2T>C
ENST00000342058.8:c.1185+2T>C	ENSP00000345008.4:n.1185+2T>C
ENST00000554121.2:n.311+2T>C
ENST00000556154.5:c.1200+2T>C	ENSP00000451982.1:n.1200+2T>C
NM_006329.3:c.1185+2T>C , LRG_364t1:c.1185+2T>C	NP_006320.2:n.1185+2T>C
XM_005267267.3:c.1236+2T>C	XP_005267324.1:n.1236+2T>C
XM_011536356.1:c.1236+2T>C	XP_011534658.1:n.1236+2T>C
XM_011536357.1:c.1185+2T>C	XP_011534659.1:n.1185+2T>C
XM_011536358.1:c.1017+2T>C	XP_011534660.1:n.1017+2T>C
XM_011536357.2:c.1185+2T>C	XP_011534659.1:n.1185+2T>C
XM_011536358.2:c.1017+2T>C	XP_011534660.1:n.1017+2T>C
XM_017020929.2:c.1017+2T>C	XP_016876418.1:n.1017+2T>C
NM_001384158.1:c.1308+2T>C	NP_001371087.1:n.1308+2T>C
NM_001384159.1:c.1236+2T>C	NP_001371088.1:n.1236+2T>C
NM_001384160.1:c.1185+2T>C	NP_001371089.1:n.1185+2T>C
NM_001384161.1:c.1017+2T>C	NP_001371090.1:n.1017+2T>C
NM_001384162.1:c.1017+2T>C	NP_001371091.1:n.1017+2T>C
NM_006329.4:c.1185+2T>C MANE Select	NP_006320.2:n.1185+2T>C