Canonical Allele Identifier: CA355331418

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183072472A>C , CM000665.2:g.183072472A>C	GRCh38
NC_000003.11:g.182790260A>C , CM000665.1:g.182790260A>C	GRCh37
NC_000003.10:g.184272954A>C	NCBI36
NG_008100.1:g.32106T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.385T>G MANE Select	NP_064551.3:p.Cys129Gly
ENST00000265594.9:c.385T>G MANE Select	ENSP00000265594.4:p.Cys129Gly
NM_001293273.1:c.141-1115T>G	NP_001280202.1:n.141-1115T>G
NM_001293273.2:c.141-1115T>G	NP_001280202.1:n.141-1115T>G
NM_001363880.1:c.58T>G	NP_001350809.1:p.Cys20Gly
NM_020166.4:c.385T>G	NP_064551.3:p.Cys129Gly
NR_120639.1:n.299T>G
NR_120639.2:n.208T>G
NR_120640.1:n.1052T>G
NR_120640.2:n.1052T>G
ENST00000265594.8:c.385T>G	ENSP00000265594.4:p.Cys129Gly
ENST00000466650.5:c.*89-1115T>G	ENSP00000418979.1:n.*89-1115T>G
ENST00000476176.5:c.244T>G	ENSP00000420433.1:p.Cys82Gly
ENST00000486226.1:c.*142T>G	ENSP00000420223.1:n.*142T>G
ENST00000487634.5:c.152T>G	ENSP00000420591.1:p.Met51Arg
ENST00000490284.5:c.105T>G	ENSP00000419328.1:p.Asp35Glu
ENST00000492597.5:c.58T>G	ENSP00000419898.1:p.Cys20Gly
ENST00000495767.5:c.152T>G	ENSP00000419658.1:p.Met51Arg
ENST00000497830.5:c.*89-1115T>G	ENSP00000420088.1:n.*89-1115T>G
ENST00000497959.5:c.271T>G	ENSP00000420648.1:p.Cys91Gly
ENST00000539926.5:c.43-1115T>G	ENSP00000441253.2:n.43-1115T>G
ENST00000610757.4:c.43-1115T>G	ENSP00000480435.1:n.43-1115T>G
ENST00000629669.2:c.271T>G	ENSP00000486824.1:p.Cys91Gly
XM_006713702.1:c.58T>G	XP_006713765.1:p.Cys20Gly
XM_011512992.1:c.271T>G	XP_011511294.1:p.Cys91Gly
XM_011512992.2:c.271T>G	XP_011511294.1:p.Cys91Gly
XM_011512993.1:c.385T>G	XP_011511295.1:p.Cys129Gly
XR_001740207.2:n.508T>G
XR_001740208.2:n.508T>G
XR_001740209.2:n.478T>G
XR_001740210.1:n.338T>G
XR_002959553.1:n.508T>G
XR_002959554.1:n.508T>G
XR_241502.2:n.532T>G
XR_241502.3:n.478T>G
XR_924159.1:n.532T>G