Canonical Allele Identifier: CA2719110

Gene: MCCC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183086742T>C , CM000665.2:g.183086742T>C	GRCh38
NC_000003.11:g.182804530T>C , CM000665.1:g.182804530T>C	GRCh37
NC_000003.10:g.184287224T>C	NCBI36
NG_008100.1:g.17836A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.320A>G MANE Select	ENSP00000265594.4:p.Tyr107Cys
ENST00000265594.8:c.320A>G	ENSP00000265594.4:p.Tyr107Cys
ENST00000466650.5:c.*39A>G	ENSP00000418979.1:n.*39A>G
ENST00000476176.5:c.179A>G	ENSP00000420433.1:p.Tyr60Cys
ENST00000486226.1:c.*77A>G	ENSP00000420223.1:n.*77A>G
ENST00000487634.5:c.136+7817A>G	ENSP00000420591.1:n.136+7817A>G
ENST00000490284.5:c.89+12610A>G	ENSP00000419328.1:n.89+12610A>G
ENST00000492597.5:c.-8A>G	ENSP00000419898.1:n.-8A>G
ENST00000495767.5:c.136+7817A>G	ENSP00000419658.1:n.136+7817A>G
ENST00000497830.5:c.*39A>G	ENSP00000420088.1:n.*39A>G
ENST00000497959.5:c.206A>G	ENSP00000420648.1:p.Tyr69Cys
ENST00000539926.5:c.-8A>G	ENSP00000441253.2:n.-8A>G
ENST00000610757.4:c.-8A>G	ENSP00000480435.1:n.-8A>G
ENST00000629669.2:c.206A>G	ENSP00000486824.1:p.Tyr69Cys
NM_001293273.1:c.91A>G	NP_001280202.1:p.Thr31Ala
NM_020166.4:c.320A>G	NP_064551.3:p.Tyr107Cys
NR_120639.1:n.283+7817A>G
NR_120640.1:n.987A>G
XM_006713702.1:c.-8A>G	XP_006713765.1:n.-8A>G
XM_011512992.1:c.206A>G	XP_011511294.1:p.Tyr69Cys
XM_011512993.1:c.320A>G	XP_011511295.1:p.Tyr107Cys
XR_241502.2:n.467A>G
XR_924159.1:n.467A>G
NM_001363880.1:c.-8A>G	NP_001350809.1:n.-8A>G
XM_011512992.2:c.206A>G	XP_011511294.1:p.Tyr69Cys
XR_001740207.2:n.443A>G
XR_001740208.2:n.443A>G
XR_001740209.2:n.413A>G
XR_001740210.1:n.273A>G
XR_002959553.1:n.443A>G
XR_002959554.1:n.443A>G
XR_241502.3:n.413A>G
NM_020166.5:c.320A>G MANE Select	NP_064551.3:p.Tyr107Cys
NM_001293273.2:c.91A>G	NP_001280202.1:p.Thr31Ala
NR_120639.2:n.192+7817A>G
NR_120640.2:n.987A>G