Canonical Allele Identifier: CA2719045

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183071314C>T , CM000665.2:g.183071314C>T	GRCh38
NC_000003.11:g.182789102C>T , CM000665.1:g.182789102C>T	GRCh37
NC_000003.10:g.184271796C>T	NCBI36
NG_008100.1:g.33264G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.535G>A MANE Select	NP_064551.3:p.Glu179Lys
ENST00000265594.9:c.535G>A MANE Select	ENSP00000265594.4:p.Glu179Lys
NM_001293273.1:c.184G>A	NP_001280202.1:p.Glu62Lys
NM_001293273.2:c.184G>A	NP_001280202.1:p.Glu62Lys
NM_001363880.1:c.208G>A	NP_001350809.1:p.Glu70Lys
NM_020166.4:c.535G>A	NP_064551.3:p.Glu179Lys
NR_120639.1:n.449G>A
NR_120639.2:n.358G>A
NR_120640.1:n.1202G>A
NR_120640.2:n.1202G>A
ENST00000265594.8:c.535G>A	ENSP00000265594.4:p.Glu179Lys
ENST00000466650.5:c.*132G>A	ENSP00000418979.1:n.*132G>A
ENST00000476176.5:c.394G>A	ENSP00000420433.1:p.Glu132Lys
ENST00000487634.5:c.*116G>A	ENSP00000420591.1:n.*116G>A
ENST00000490284.5:c.*84G>A	ENSP00000419328.1:n.*84G>A
ENST00000492597.5:c.208G>A	ENSP00000419898.1:p.Glu70Lys
ENST00000495767.5:c.*116G>A	ENSP00000419658.1:n.*116G>A
ENST00000497830.5:c.*132G>A	ENSP00000420088.1:n.*132G>A
ENST00000497959.5:c.421G>A	ENSP00000420648.1:p.Glu141Lys
ENST00000539926.5:c.85G>A	ENSP00000441253.2:p.Glu29Lys
ENST00000610757.4:c.85G>A	ENSP00000480435.1:p.Glu29Lys
ENST00000629669.2:c.421G>A	ENSP00000486824.1:p.Glu141Lys
XM_006713702.1:c.208G>A	XP_006713765.1:p.Glu70Lys
XM_011512992.1:c.421G>A	XP_011511294.1:p.Glu141Lys
XM_011512992.2:c.421G>A	XP_011511294.1:p.Glu141Lys
XM_011512993.1:c.535G>A	XP_011511295.1:p.Glu179Lys
XR_001740207.2:n.658G>A
XR_001740208.2:n.658G>A
XR_001740209.2:n.628G>A
XR_001740210.1:n.488G>A
XR_002959553.1:n.658G>A
XR_002959554.1:n.658G>A
XR_241502.2:n.682G>A
XR_241502.3:n.628G>A
XR_924159.1:n.682G>A