Canonical Allele Identifier: CA501060590
Gene: MTMR4 HGNC NCBI

Linked Data

dbSNP Id: rs1975790725
MyVariant Identifiers: chr17:g.56584224G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58506863G>A , CM000679.2:g.58506863G>A GRCh38
NC_000017.10:g.56584224G>A , CM000679.1:g.56584224G>A GRCh37
NC_000017.9:g.53939223G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682306.1:c.913C>T MANE Select ENSP00000507664.1:p.Leu305=
ENST00000323456.9:c.871C>T ENSP00000325285.5:p.Leu291=
ENST00000579925.5:c.871C>T ENSP00000464067.1:p.Leu291=
NM_004687.4:c.871C>T NP_004678.3:p.Leu291=
XM_005257784.2:c.913C>T XP_005257841.1:p.Leu305=
XM_005257785.3:c.883C>T XP_005257842.1:p.Leu295=
XM_005257786.3:c.871C>T XP_005257843.1:p.Leu291=
XM_006722168.2:c.871C>T XP_006722231.1:p.Leu291=
XM_011525460.1:c.883C>T XP_011523762.1:p.Leu295=
XM_005257785.5:c.883C>T XP_005257842.1:p.Leu295=
XM_005257786.5:c.871C>T XP_005257843.1:p.Leu291=
XM_006722168.4:c.871C>T XP_006722231.1:p.Leu291=
XM_011525460.3:c.883C>T XP_011523762.1:p.Leu295=
NM_004687.5:c.871C>T NP_004678.3:p.Leu291=
NM_001378066.1:c.883C>T NP_001364995.1:p.Leu295=
NM_001378067.1:c.913C>T MANE Select NP_001364996.1:p.Leu305=