Canonical Allele Identifier: CA355319654

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183086782C>T , CM000665.2:g.183086782C>T	GRCh38
NC_000003.11:g.182804570C>T , CM000665.1:g.182804570C>T	GRCh37
NC_000003.10:g.184287264C>T	NCBI36
NG_008100.1:g.17796G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.280G>A MANE Select	NP_064551.3:p.Glu94Lys
ENST00000265594.9:c.280G>A MANE Select	ENSP00000265594.4:p.Glu94Lys
NM_001293273.1:c.51G>A	NP_001280202.1:p.Met17Ile
NM_001293273.2:c.51G>A	NP_001280202.1:p.Met17Ile
NM_001363880.1:c.-48G>A	NP_001350809.1:n.-48G>A
NM_020166.4:c.280G>A	NP_064551.3:p.Glu94Lys
NR_120639.1:n.283+7777G>A
NR_120639.2:n.192+7777G>A
NR_120640.1:n.947G>A
NR_120640.2:n.947G>A
ENST00000265594.8:c.280G>A	ENSP00000265594.4:p.Glu94Lys
ENST00000466650.5:c.143G>A	ENSP00000418979.1:p.Ter48=
ENST00000476176.5:c.139G>A	ENSP00000420433.1:p.Glu47Lys
ENST00000486226.1:c.*37G>A	ENSP00000420223.1:n.*37G>A
ENST00000487634.5:c.136+7777G>A	ENSP00000420591.1:n.136+7777G>A
ENST00000490284.5:c.89+12570G>A	ENSP00000419328.1:n.89+12570G>A
ENST00000492597.5:c.-48G>A	ENSP00000419898.1:n.-48G>A
ENST00000495767.5:c.136+7777G>A	ENSP00000419658.1:n.136+7777G>A
ENST00000497830.5:c.143G>A	ENSP00000420088.1:p.Ter48=
ENST00000497959.5:c.166G>A	ENSP00000420648.1:p.Glu56Lys
ENST00000539926.5:c.-48G>A	ENSP00000441253.2:n.-48G>A
ENST00000610757.4:c.-48G>A	ENSP00000480435.1:n.-48G>A
ENST00000629669.2:c.166G>A	ENSP00000486824.1:p.Glu56Lys
XM_006713702.1:c.-48G>A	XP_006713765.1:n.-48G>A
XM_011512992.1:c.166G>A	XP_011511294.1:p.Glu56Lys
XM_011512992.2:c.166G>A	XP_011511294.1:p.Glu56Lys
XM_011512993.1:c.280G>A	XP_011511295.1:p.Glu94Lys
XR_001740207.2:n.403G>A
XR_001740208.2:n.403G>A
XR_001740209.2:n.373G>A
XR_001740210.1:n.233G>A
XR_002959553.1:n.403G>A
XR_002959554.1:n.403G>A
XR_241502.2:n.427G>A
XR_241502.3:n.373G>A
XR_924159.1:n.427G>A