Canonical Allele Identifier: CA355330610

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183071310C>A , CM000665.2:g.183071310C>A	GRCh38
NC_000003.11:g.182789098C>A , CM000665.1:g.182789098C>A	GRCh37
NC_000003.10:g.184271792C>A	NCBI36
NG_008100.1:g.33268G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.539G>T MANE Select	NP_064551.3:p.Gly180Val
ENST00000265594.9:c.539G>T MANE Select	ENSP00000265594.4:p.Gly180Val
NM_001293273.1:c.188G>T	NP_001280202.1:p.Gly63Val
NM_001293273.2:c.188G>T	NP_001280202.1:p.Gly63Val
NM_001363880.1:c.212G>T	NP_001350809.1:p.Gly71Val
NM_020166.4:c.539G>T	NP_064551.3:p.Gly180Val
NR_120639.1:n.453G>T
NR_120639.2:n.362G>T
NR_120640.1:n.1206G>T
NR_120640.2:n.1206G>T
ENST00000265594.8:c.539G>T	ENSP00000265594.4:p.Gly180Val
ENST00000466650.5:c.*136G>T	ENSP00000418979.1:n.*136G>T
ENST00000476176.5:c.398G>T	ENSP00000420433.1:p.Gly133Val
ENST00000487634.5:c.*120G>T	ENSP00000420591.1:n.*120G>T
ENST00000490284.5:c.*88G>T	ENSP00000419328.1:n.*88G>T
ENST00000492597.5:c.212G>T	ENSP00000419898.1:p.Gly71Val
ENST00000495767.5:c.*120G>T	ENSP00000419658.1:n.*120G>T
ENST00000497830.5:c.*136G>T	ENSP00000420088.1:n.*136G>T
ENST00000497959.5:c.425G>T	ENSP00000420648.1:p.Gly142Val
ENST00000539926.5:c.89G>T	ENSP00000441253.2:p.Gly30Val
ENST00000610757.4:c.89G>T	ENSP00000480435.1:p.Gly30Val
ENST00000629669.2:c.425G>T	ENSP00000486824.1:p.Gly142Val
XM_006713702.1:c.212G>T	XP_006713765.1:p.Gly71Val
XM_011512992.1:c.425G>T	XP_011511294.1:p.Gly142Val
XM_011512992.2:c.425G>T	XP_011511294.1:p.Gly142Val
XM_011512993.1:c.539G>T	XP_011511295.1:p.Gly180Val
XR_001740207.2:n.662G>T
XR_001740208.2:n.662G>T
XR_001740209.2:n.632G>T
XR_001740210.1:n.492G>T
XR_002959553.1:n.662G>T
XR_002959554.1:n.662G>T
XR_241502.2:n.686G>T
XR_241502.3:n.632G>T
XR_924159.1:n.686G>T