Canonical Allele Identifier: CA400363007

Gene: MTMR4

Linked Data

• MyVariant Identifiers: chr17:g.56584178A>C (hg19) ; chr17:g.58506817A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58506817A>C , CM000679.2:g.58506817A>C	GRCh38
NC_000017.10:g.56584178A>C , CM000679.1:g.56584178A>C	GRCh37
NC_000017.9:g.53939177A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682306.1:c.959T>G MANE Select	ENSP00000507664.1:p.Leu320Arg
ENST00000323456.9:c.917T>G	ENSP00000325285.5:p.Leu306Arg
ENST00000579925.5:c.917T>G	ENSP00000464067.1:p.Leu306Arg
NM_004687.4:c.917T>G	NP_004678.3:p.Leu306Arg
XM_005257784.2:c.959T>G	XP_005257841.1:p.Leu320Arg
XM_005257785.3:c.929T>G	XP_005257842.1:p.Leu310Arg
XM_005257786.3:c.917T>G	XP_005257843.1:p.Leu306Arg
XM_006722168.2:c.917T>G	XP_006722231.1:p.Leu306Arg
XM_011525460.1:c.929T>G	XP_011523762.1:p.Leu310Arg
XM_005257785.5:c.929T>G	XP_005257842.1:p.Leu310Arg
XM_005257786.5:c.917T>G	XP_005257843.1:p.Leu306Arg
XM_006722168.4:c.917T>G	XP_006722231.1:p.Leu306Arg
XM_011525460.3:c.929T>G	XP_011523762.1:p.Leu310Arg
NM_004687.5:c.917T>G	NP_004678.3:p.Leu306Arg
NM_001378066.1:c.929T>G	NP_001364995.1:p.Leu310Arg
NM_001378067.1:c.959T>G MANE Select	NP_001364996.1:p.Leu320Arg