Canonical Allele Identifier: CA408182140

Gene: FERMT1

Linked Data

• MyVariant Identifiers: chr20:g.6077553A>G (hg19) ; chr20:g.6096906A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6096906A>G , CM000682.2:g.6096906A>G	GRCh38
NC_000020.10:g.6077553A>G , CM000682.1:g.6077553A>G	GRCh37
NC_000020.9:g.6025553A>G	NCBI36
NG_016213.1:g.31639T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699095.1:c.1085T>C	ENSP00000514127.1:p.Leu362Pro
ENST00000699096.1:n.1547T>C
ENST00000699097.1:n.255T>C
ENST00000217289.9:c.1085T>C MANE Select	ENSP00000217289.4:p.Leu362Pro
ENST00000217289.8:c.1085T>C	ENSP00000217289.4:p.Leu362Pro
ENST00000536936.1:c.314T>C	ENSP00000441063.1:p.Leu105Pro
NM_017671.4:c.1085T>C	NP_060141.3:p.Leu362Pro
XM_024451935.1:c.1085T>C	XP_024307703.1:p.Leu362Pro
NM_017671.5:c.1085T>C MANE Select	NP_060141.3:p.Leu362Pro