Canonical Allele Identifier: CA381088357

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63988101T>C (hg19) ; chr11:g.64220629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220629T>C , CM000673.2:g.64220629T>C	GRCh38
NC_000011.9:g.63988101T>C , CM000673.1:g.63988101T>C	GRCh37
NC_000011.8:g.63744677T>C	NCBI36
NG_016360.1:g.18950T>C , LRG_180:g.18950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1517T>C	ENSP00000279227.5:p.Leu506Pro
ENST00000540554.2:n.2683T>C
ENST00000541252.2:c.965T>C	ENSP00000438885.2:p.Leu322Pro
ENST00000541326.6:n.926T>C
ENST00000544997.6:c.1505T>C	ENSP00000445778.2:p.Leu502Pro
ENST00000545896.2:c.194T>C	ENSP00000440209.2:p.Leu65Pro
ENST00000546255.2:n.1809T>C
ENST00000698845.1:c.*700T>C	ENSP00000513981.1:n.*700T>C
ENST00000698846.1:n.1751T>C
ENST00000698847.1:c.*910T>C	ENSP00000513982.1:n.*910T>C
ENST00000698849.1:n.625T>C
ENST00000698850.1:n.1273T>C
ENST00000698852.1:c.1505T>C	ENSP00000513984.1:p.Leu502Pro
ENST00000698853.1:c.*734T>C	ENSP00000513985.1:n.*734T>C
ENST00000698854.1:c.*835T>C	ENSP00000513986.1:n.*835T>C
ENST00000698855.1:n.3157T>C
ENST00000698856.1:n.2851T>C
ENST00000698859.1:n.1669T>C
ENST00000698860.1:c.1517T>C	ENSP00000513988.1:p.Leu506Pro
ENST00000698861.1:c.1505T>C	ENSP00000513989.1:p.Leu502Pro
ENST00000698862.1:c.*801T>C	ENSP00000513990.1:n.*801T>C
ENST00000698863.1:c.1505T>C	ENSP00000513991.1:p.Leu502Pro
ENST00000698864.1:n.1720T>C
ENST00000698865.1:c.1526T>C	ENSP00000513992.1:p.Leu509Pro
ENST00000698866.1:c.*1019T>C	ENSP00000513993.1:n.*1019T>C
ENST00000698867.1:n.5480T>C
ENST00000698868.1:c.1370T>C	ENSP00000513994.1:p.Leu457Pro
ENST00000698869.1:c.1311+303T>C	ENSP00000513995.1:n.1311+303T>C
ENST00000698870.1:c.1505T>C	ENSP00000513996.1:p.Leu502Pro
ENST00000698871.1:n.2028T>C
ENST00000698872.1:c.*294T>C	ENSP00000513997.1:n.*294T>C
ENST00000698873.1:c.*700T>C	ENSP00000513998.1:n.*700T>C
ENST00000698874.1:c.965T>C	ENSP00000513999.1:p.Leu322Pro
ENST00000698875.1:n.1365T>C
ENST00000698876.1:n.1553T>C
ENST00000698877.1:n.1073T>C
ENST00000698878.1:c.1499T>C	ENSP00000514000.1:p.Leu500Pro
ENST00000698880.1:c.1373T>C
ENST00000345728.10:c.1505T>C MANE Select	ENSP00000339950.5:p.Leu502Pro
ENST00000279227.9:c.1517T>C	ENSP00000279227.5:p.Leu506Pro
ENST00000345728.9:c.1505T>C	ENSP00000339950.5:p.Leu502Pro
ENST00000545896.1:c.193T>C	ENSP00000440209.1:p.Ser65Pro
NM_031471.5:c.1505T>C	NP_113659.3:p.Leu502Pro
NM_178443.2:c.1517T>C , LRG_180t1:c.1517T>C	NP_848537.1:p.Leu506Pro
XM_011545294.1:c.1517T>C	XP_011543596.1:p.Leu506Pro
XM_011545295.1:c.977T>C	XP_011543597.1:p.Leu326Pro
XM_011545296.1:c.977T>C	XP_011543598.1:p.Leu326Pro
XM_011545294.3:c.1517T>C	XP_011543596.1:p.Leu506Pro
XM_011545295.2:c.977T>C	XP_011543597.1:p.Leu326Pro
XM_017018398.2:c.1505T>C	XP_016873887.1:p.Leu502Pro
XM_017018399.1:c.965T>C	XP_016873888.1:p.Leu322Pro
NM_031471.6:c.1505T>C MANE Select	NP_113659.3:p.Leu502Pro
NM_001382361.1:c.1505T>C	NP_001369290.1:p.Leu502Pro
NM_001382362.1:c.1517T>C	NP_001369291.1:p.Leu506Pro
NM_001382363.1:c.965T>C	NP_001369292.1:p.Leu322Pro
NM_001382364.1:c.977T>C	NP_001369293.1:p.Leu326Pro
NM_001382448.1:c.1505T>C	NP_001369377.1:p.Leu502Pro
NM_178443.3:c.1517T>C	NP_848537.1:p.Leu506Pro