Canonical Allele Identifier: CA366398342

Gene: MPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166366065T>C , CM000668.2:g.166366065T>C	GRCh38
NC_000006.11:g.166779553T>C , CM000668.1:g.166779553T>C	GRCh37
NC_000006.10:g.166699543T>C	NCBI36
NG_032888.1:g.21949A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016098.4:c.214A>G MANE Select	NP_057182.1:p.Lys72Glu
ENST00000360961.11:c.214A>G MANE Select	ENSP00000354223.6:p.Lys72Glu
NM_001270879.1:c.85A>G	NP_001257808.1:p.Lys29Glu
NM_001270879.2:c.85A>G	NP_001257808.1:p.Lys29Glu
NM_001376565.1:c.85A>G	NP_001363494.1:p.Lys29Glu
NM_001376566.1:c.85A>G	NP_001363495.1:p.Lys29Glu
NM_001376567.1:c.85A>G	NP_001363496.1:p.Lys29Glu
NM_001376568.1:c.85A>G	NP_001363497.1:p.Lys29Glu
NM_001376569.1:c.173-9A>G	NP_001363498.1:n.173-9A>G
NM_016098.3:c.214A>G	NP_057182.1:p.Lys72Glu
NR_073093.1:n.580A>G
NR_073093.2:n.507A>G
NR_164828.1:n.233-3A>G
NR_164829.1:n.233-612A>G
NR_164830.1:n.233-9A>G
NR_164831.1:n.217-9A>G
ENST00000341756.10:c.85A>G	ENSP00000340784.7:p.Lys29Glu
ENST00000360961.10:c.214A>G	ENSP00000354223.6:p.Lys72Glu
ENST00000366868.5:n.257A>G
ENST00000475708.1:n.438A>G
ENST00000487218.5:n.447A>G
ENST00000621630.1:c.214A>G	ENSP00000479789.1:p.Lys72Glu
ENST00000621685.4:c.85A>G	ENSP00000477853.1:p.Lys29Glu
XM_006715499.1:c.85A>G	XP_006715562.1:p.Lys29Glu
XM_011535894.1:c.85A>G	XP_011534196.1:p.Lys29Glu
XM_011535895.1:c.85A>G	XP_011534197.1:p.Lys29Glu
XM_011535895.2:c.85A>G	XP_011534197.1:p.Lys29Glu
XM_024446456.1:c.85A>G	XP_024302224.1:p.Lys29Glu