Canonical Allele Identifier: CA355321990

Gene: MCCC1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039094G>T , CM000665.2:g.183039094G>T	GRCh38
NC_000003.11:g.182756882G>T , CM000665.1:g.182756882G>T	GRCh37
NC_000003.10:g.184239576G>T	NCBI36
NG_008100.1:g.65484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1309C>A MANE Select	ENSP00000265594.4:p.Leu437Met
ENST00000265594.8:c.1309C>A	ENSP00000265594.4:p.Leu437Met
ENST00000476176.5:c.1168C>A	ENSP00000420433.1:p.Leu390Met
ENST00000492597.5:c.982C>A	ENSP00000419898.1:p.Leu328Met
ENST00000495767.5:c.*890C>A	ENSP00000419658.1:n.*890C>A
ENST00000497830.5:c.*906C>A	ENSP00000420088.1:n.*906C>A
ENST00000497959.5:c.1195C>A	ENSP00000420648.1:p.Leu399Met
ENST00000539926.5:c.859C>A	ENSP00000441253.2:p.Leu287Met
ENST00000610757.4:c.859C>A	ENSP00000480435.1:p.Leu287Met
ENST00000629669.2:c.1195C>A	ENSP00000486824.1:p.Leu399Met
NM_001293273.1:c.958C>A	NP_001280202.1:p.Leu320Met
NM_020166.4:c.1309C>A	NP_064551.3:p.Leu437Met
NR_120639.1:n.1223C>A
NR_120640.1:n.1976C>A
XM_006713702.1:c.982C>A	XP_006713765.1:p.Leu328Met
XM_011512992.1:c.1195C>A	XP_011511294.1:p.Leu399Met
XM_011512993.1:c.1309C>A	XP_011511295.1:p.Leu437Met
XR_241502.2:n.1456C>A
XR_924159.1:n.1456C>A
NM_001363880.1:c.982C>A	NP_001350809.1:p.Leu328Met
XM_011512992.2:c.1195C>A	XP_011511294.1:p.Leu399Met
XR_001740207.2:n.1432C>A
XR_001740208.2:n.1432C>A
XR_001740209.2:n.1402C>A
XR_001740210.1:n.1262C>A
XR_002959553.1:n.1432C>A
XR_002959554.1:n.1432C>A
XR_241502.3:n.1402C>A
NM_020166.5:c.1309C>A MANE Select	NP_064551.3:p.Leu437Met
NM_001293273.2:c.958C>A	NP_001280202.1:p.Leu320Met
NR_120639.2:n.1132C>A
NR_120640.2:n.1976C>A