Canonical Allele Identifier: CA366398178

Gene: MPC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166365989C>T , CM000668.2:g.166365989C>T	GRCh38
NC_000006.11:g.166779477C>T , CM000668.1:g.166779477C>T	GRCh37
NC_000006.10:g.166699467C>T	NCBI36
NG_032888.1:g.22025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360961.11:c.290G>A MANE Select	ENSP00000354223.6:p.Arg97Gln
ENST00000341756.10:c.161G>A	ENSP00000340784.7:p.Arg54Gln
ENST00000360961.10:c.290G>A	ENSP00000354223.6:p.Arg97Gln
ENST00000366868.5:n.333G>A
ENST00000475708.1:n.514G>A
ENST00000487218.5:n.523G>A
ENST00000621630.1:c.290G>A	ENSP00000479789.1:p.Arg97Gln
ENST00000621685.4:c.161G>A	ENSP00000477853.1:p.Arg54Gln
NM_001270879.1:c.161G>A	NP_001257808.1:p.Arg54Gln
NM_016098.3:c.290G>A	NP_057182.1:p.Arg97Gln
NR_073093.1:n.656G>A
XM_006715499.1:c.161G>A	XP_006715562.1:p.Arg54Gln
XM_011535894.1:c.161G>A	XP_011534196.1:p.Arg54Gln
XM_011535895.1:c.161G>A	XP_011534197.1:p.Arg54Gln
XM_011535895.2:c.161G>A	XP_011534197.1:p.Arg54Gln
XM_024446456.1:c.161G>A	XP_024302224.1:p.Arg54Gln
NM_016098.4:c.290G>A MANE Select	NP_057182.1:p.Arg97Gln
NM_001270879.2:c.161G>A	NP_001257808.1:p.Arg54Gln
NM_001376565.1:c.161G>A	NP_001363494.1:p.Arg54Gln
NM_001376566.1:c.161G>A	NP_001363495.1:p.Arg54Gln
NM_001376567.1:c.161G>A	NP_001363496.1:p.Arg54Gln
NM_001376568.1:c.161G>A	NP_001363497.1:p.Arg54Gln
NM_001376569.1:c.*27G>A	NP_001363498.1:n.*27G>A
NR_073093.2:n.583G>A
NR_164828.1:n.306G>A
NR_164829.1:n.233-536G>A
NR_164830.1:n.300G>A
NR_164831.1:n.284G>A