Canonical Allele Identifier: CA2719082

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183072484T>C , CM000665.2:g.183072484T>C	GRCh38
NC_000003.11:g.182790272T>C , CM000665.1:g.182790272T>C	GRCh37
NC_000003.10:g.184272966T>C	NCBI36
NG_008100.1:g.32094A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.373A>G MANE Select	NP_064551.3:p.Ile125Val
ENST00000265594.9:c.373A>G MANE Select	ENSP00000265594.4:p.Ile125Val
NM_001293273.1:c.141-1127A>G	NP_001280202.1:n.141-1127A>G
NM_001293273.2:c.141-1127A>G	NP_001280202.1:n.141-1127A>G
NM_001363880.1:c.46A>G	NP_001350809.1:p.Ile16Val
NM_020166.4:c.373A>G	NP_064551.3:p.Ile125Val
NR_120639.1:n.287A>G
NR_120639.2:n.196A>G
NR_120640.1:n.1040A>G
NR_120640.2:n.1040A>G
ENST00000265594.8:c.373A>G	ENSP00000265594.4:p.Ile125Val
ENST00000466650.5:c.*89-1127A>G	ENSP00000418979.1:n.*89-1127A>G
ENST00000476176.5:c.232A>G	ENSP00000420433.1:p.Ile78Val
ENST00000486226.1:c.*130A>G	ENSP00000420223.1:n.*130A>G
ENST00000487634.5:c.140A>G	ENSP00000420591.1:p.Tyr47Cys
ENST00000490284.5:c.93A>G	ENSP00000419328.1:p.Leu31=
ENST00000492597.5:c.46A>G	ENSP00000419898.1:p.Ile16Val
ENST00000495767.5:c.140A>G	ENSP00000419658.1:p.Tyr47Cys
ENST00000497830.5:c.*89-1127A>G	ENSP00000420088.1:n.*89-1127A>G
ENST00000497959.5:c.259A>G	ENSP00000420648.1:p.Ile87Val
ENST00000539926.5:c.43-1127A>G	ENSP00000441253.2:n.43-1127A>G
ENST00000610757.4:c.43-1127A>G	ENSP00000480435.1:n.43-1127A>G
ENST00000629669.2:c.259A>G	ENSP00000486824.1:p.Ile87Val
XM_006713702.1:c.46A>G	XP_006713765.1:p.Ile16Val
XM_011512992.1:c.259A>G	XP_011511294.1:p.Ile87Val
XM_011512992.2:c.259A>G	XP_011511294.1:p.Ile87Val
XM_011512993.1:c.373A>G	XP_011511295.1:p.Ile125Val
XR_001740207.2:n.496A>G
XR_001740208.2:n.496A>G
XR_001740209.2:n.466A>G
XR_001740210.1:n.326A>G
XR_002959553.1:n.496A>G
XR_002959554.1:n.496A>G
XR_241502.2:n.520A>G
XR_241502.3:n.466A>G
XR_924159.1:n.520A>G