Canonical Allele Identifier: CA4093611

Gene: MPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166365975C>T , CM000668.2:g.166365975C>T	GRCh38
NC_000006.11:g.166779463C>T , CM000668.1:g.166779463C>T	GRCh37
NC_000006.10:g.166699453C>T	NCBI36
NG_032888.1:g.22039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360961.11:c.304G>A MANE Select	ENSP00000354223.6:p.Glu102Lys
ENST00000341756.10:c.175G>A	ENSP00000340784.7:p.Glu59Lys
ENST00000360961.10:c.304G>A	ENSP00000354223.6:p.Glu102Lys
ENST00000366868.5:n.347G>A
ENST00000475708.1:n.528G>A
ENST00000487218.5:n.537G>A
ENST00000621630.1:c.304G>A	ENSP00000479789.1:p.Glu102Lys
ENST00000621685.4:c.175G>A	ENSP00000477853.1:p.Glu59Lys
NM_001270879.1:c.175G>A	NP_001257808.1:p.Glu59Lys
NM_016098.3:c.304G>A	NP_057182.1:p.Glu102Lys
NR_073093.1:n.670G>A
XM_006715499.1:c.175G>A	XP_006715562.1:p.Glu59Lys
XM_011535894.1:c.175G>A	XP_011534196.1:p.Glu59Lys
XM_011535895.1:c.175G>A	XP_011534197.1:p.Glu59Lys
XM_011535895.2:c.175G>A	XP_011534197.1:p.Glu59Lys
XM_024446456.1:c.175G>A	XP_024302224.1:p.Glu59Lys
NM_016098.4:c.304G>A MANE Select	NP_057182.1:p.Glu102Lys
NM_001270879.2:c.175G>A	NP_001257808.1:p.Glu59Lys
NM_001376565.1:c.175G>A	NP_001363494.1:p.Glu59Lys
NM_001376566.1:c.175G>A	NP_001363495.1:p.Glu59Lys
NM_001376567.1:c.175G>A	NP_001363496.1:p.Glu59Lys
NM_001376568.1:c.175G>A	NP_001363497.1:p.Glu59Lys
NM_001376569.1:c.*41G>A	NP_001363498.1:n.*41G>A
NR_073093.2:n.597G>A
NR_164828.1:n.320G>A
NR_164829.1:n.233-522G>A
NR_164830.1:n.314G>A
NR_164831.1:n.298G>A