Canonical Allele Identifier: CA355318615

Gene: MCCC1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183034075G>C , CM000665.2:g.183034075G>C	GRCh38
NC_000003.11:g.182751863G>C , CM000665.1:g.182751863G>C	GRCh37
NC_000003.10:g.184234557G>C	NCBI36
NG_008100.1:g.70503C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1597C>G MANE Select	ENSP00000265594.4:p.Gln533Glu
ENST00000265594.8:c.1597C>G	ENSP00000265594.4:p.Gln533Glu
ENST00000476176.5:c.1456C>G	ENSP00000420433.1:p.Gln486Glu
ENST00000489909.1:n.141C>G
ENST00000492597.5:c.1270C>G	ENSP00000419898.1:p.Gln424Glu
ENST00000495767.5:c.*1178C>G	ENSP00000419658.1:n.*1178C>G
ENST00000497830.5:c.*1194C>G	ENSP00000420088.1:n.*1194C>G
ENST00000497959.5:c.1266C>G	ENSP00000420648.1:p.Ile422Met
ENST00000539926.5:c.1147C>G	ENSP00000441253.2:p.Gln383Glu
ENST00000610757.4:c.1147C>G	ENSP00000480435.1:p.Gln383Glu
ENST00000629669.2:c.1266C>G	ENSP00000486824.1:p.Ile422Met
NM_001293273.1:c.1246C>G	NP_001280202.1:p.Gln416Glu
NM_020166.4:c.1597C>G	NP_064551.3:p.Gln533Glu
NR_120639.1:n.1511C>G
NR_120640.1:n.2047C>G
XM_006713702.1:c.1270C>G	XP_006713765.1:p.Gln424Glu
XM_011512992.1:c.1483C>G	XP_011511294.1:p.Gln495Glu
XM_011512993.1:c.1380C>G	XP_011511295.1:p.Ile460Met
XR_241502.2:n.1527C>G
XR_924159.1:n.1744C>G
NM_001363880.1:c.1270C>G	NP_001350809.1:p.Gln424Glu
XM_011512992.2:c.1483C>G	XP_011511294.1:p.Gln495Glu
XR_001740207.2:n.1720C>G
XR_001740208.2:n.1720C>G
XR_001740209.2:n.1473C>G
XR_001740210.1:n.1550C>G
XR_002959553.1:n.1720C>G
XR_002959554.1:n.1503C>G
XR_241502.3:n.1473C>G
NM_020166.5:c.1597C>G MANE Select	NP_064551.3:p.Gln533Glu
NM_001293273.2:c.1246C>G	NP_001280202.1:p.Gln416Glu
NR_120639.2:n.1420C>G
NR_120640.2:n.2047C>G