Canonical Allele Identifier: CA16044215

Gene: MPP4

Linked Data

• ClinVar Variation Id: 375383
• ClinVar RCV Id: RCV000416477
• dbSNP Id: rs1057519443
• MyVariant Identifiers: chr2:g.202539978A>G (hg19) ; chr2:g.201675255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201675255A>G , CM000664.2:g.201675255A>G	GRCh38
NC_000002.11:g.202539978A>G , CM000664.1:g.202539978A>G	GRCh37
NC_000002.10:g.202248223A>G	NCBI36
NG_012654.1:g.28440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409474.8:c.946T>C MANE Select	ENSP00000387278.3:p.Trp316Arg
ENST00000315506.11:c.907T>C	ENSP00000319363.7:p.Trp303Arg
ENST00000359962.9:c.946T>C	ENSP00000353047.6:p.Trp316Arg
ENST00000396886.7:c.814T>C	ENSP00000380095.3:p.Trp272Arg
ENST00000409143.5:c.865T>C	ENSP00000387293.1:p.Trp289Arg
ENST00000409474.7:c.946T>C	ENSP00000387278.3:p.Trp316Arg
ENST00000409818.7:c.985T>C	ENSP00000386580.3:p.Trp329Arg
ENST00000428900.6:c.946T>C	ENSP00000416781.2:p.Trp316Arg
ENST00000447335.6:c.946T>C	ENSP00000406160.2:p.Trp316Arg
ENST00000486212.6:n.911+5583T>C
ENST00000620095.4:c.946T>C	ENSP00000478875.1:p.Trp316Arg
NM_033066.2:c.946T>C	NP_149055.1:p.Trp316Arg
XM_011511571.1:c.814T>C	XP_011509873.1:p.Trp272Arg
XM_011511572.1:c.836+5583T>C	XP_011509874.1:n.836+5583T>C
XM_017004620.1:c.946T>C	XP_016860109.1:p.Trp316Arg
NM_033066.3:c.946T>C MANE Select	NP_149055.2:p.Trp316Arg