Canonical Allele Identifier: CA2719080

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183072471C>T , CM000665.2:g.183072471C>T	GRCh38
NC_000003.11:g.182790259C>T , CM000665.1:g.182790259C>T	GRCh37
NC_000003.10:g.184272953C>T	NCBI36
NG_008100.1:g.32107G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.386G>A MANE Select	NP_064551.3:p.Cys129Tyr
ENST00000265594.9:c.386G>A MANE Select	ENSP00000265594.4:p.Cys129Tyr
NM_001293273.1:c.141-1114G>A	NP_001280202.1:n.141-1114G>A
NM_001293273.2:c.141-1114G>A	NP_001280202.1:n.141-1114G>A
NM_001363880.1:c.59G>A	NP_001350809.1:p.Cys20Tyr
NM_020166.4:c.386G>A	NP_064551.3:p.Cys129Tyr
NR_120639.1:n.300G>A
NR_120639.2:n.209G>A
NR_120640.1:n.1053G>A
NR_120640.2:n.1053G>A
ENST00000265594.8:c.386G>A	ENSP00000265594.4:p.Cys129Tyr
ENST00000466650.5:c.*89-1114G>A	ENSP00000418979.1:n.*89-1114G>A
ENST00000476176.5:c.245G>A	ENSP00000420433.1:p.Cys82Tyr
ENST00000486226.1:c.*143G>A	ENSP00000420223.1:n.*143G>A
ENST00000487634.5:c.153G>A	ENSP00000420591.1:p.Met51Ile
ENST00000490284.5:c.106G>A	ENSP00000419328.1:p.Ala36Thr
ENST00000492597.5:c.59G>A	ENSP00000419898.1:p.Cys20Tyr
ENST00000495767.5:c.153G>A	ENSP00000419658.1:p.Met51Ile
ENST00000497830.5:c.*89-1114G>A	ENSP00000420088.1:n.*89-1114G>A
ENST00000497959.5:c.272G>A	ENSP00000420648.1:p.Cys91Tyr
ENST00000539926.5:c.43-1114G>A	ENSP00000441253.2:n.43-1114G>A
ENST00000610757.4:c.43-1114G>A	ENSP00000480435.1:n.43-1114G>A
ENST00000629669.2:c.272G>A	ENSP00000486824.1:p.Cys91Tyr
XM_006713702.1:c.59G>A	XP_006713765.1:p.Cys20Tyr
XM_011512992.1:c.272G>A	XP_011511294.1:p.Cys91Tyr
XM_011512992.2:c.272G>A	XP_011511294.1:p.Cys91Tyr
XM_011512993.1:c.386G>A	XP_011511295.1:p.Cys129Tyr
XR_001740207.2:n.509G>A
XR_001740208.2:n.509G>A
XR_001740209.2:n.479G>A
XR_001740210.1:n.339G>A
XR_002959553.1:n.509G>A
XR_002959554.1:n.509G>A
XR_241502.2:n.533G>A
XR_241502.3:n.479G>A
XR_924159.1:n.533G>A