Canonical Allele Identifier: CA2718968

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183057424T>C , CM000665.2:g.183057424T>C	GRCh38
NC_000003.11:g.182775212T>C , CM000665.1:g.182775212T>C	GRCh37
NC_000003.10:g.184257906T>C	NCBI36
NG_008100.1:g.47154A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.762-2A>G MANE Select	NP_064551.3:n.762-2A>G
ENST00000265594.9:c.762-2A>G MANE Select	ENSP00000265594.4:n.762-2A>G
NM_001293273.1:c.411-2A>G	NP_001280202.1:n.411-2A>G
NM_001293273.2:c.411-2A>G	NP_001280202.1:n.411-2A>G
NM_001363880.1:c.435-2A>G	NP_001350809.1:n.435-2A>G
NM_020166.4:c.762-2A>G	NP_064551.3:n.762-2A>G
NR_120639.1:n.676-2A>G
NR_120639.2:n.585-2A>G
NR_120640.1:n.1429-2A>G
NR_120640.2:n.1429-2A>G
ENST00000265594.8:c.762-2A>G	ENSP00000265594.4:n.762-2A>G
ENST00000476176.5:c.621-2A>G	ENSP00000420433.1:n.621-2A>G
ENST00000492597.5:c.435-2A>G	ENSP00000419898.1:n.435-2A>G
ENST00000495767.5:c.*343-2A>G	ENSP00000419658.1:n.*343-2A>G
ENST00000497830.5:c.*359-2A>G	ENSP00000420088.1:n.*359-2A>G
ENST00000497959.5:c.648-2A>G	ENSP00000420648.1:n.648-2A>G
ENST00000539926.5:c.312-2A>G	ENSP00000441253.2:n.312-2A>G
ENST00000610757.4:c.312-2A>G	ENSP00000480435.1:n.312-2A>G
ENST00000629669.2:c.648-2A>G	ENSP00000486824.1:n.648-2A>G
XM_006713702.1:c.435-2A>G	XP_006713765.1:n.435-2A>G
XM_011512992.1:c.648-2A>G	XP_011511294.1:n.648-2A>G
XM_011512992.2:c.648-2A>G	XP_011511294.1:n.648-2A>G
XM_011512993.1:c.762-2A>G	XP_011511295.1:n.762-2A>G
XR_001740207.2:n.885-2A>G
XR_001740208.2:n.885-2A>G
XR_001740209.2:n.855-2A>G
XR_001740210.1:n.715-2A>G
XR_002959553.1:n.885-2A>G
XR_002959554.1:n.885-2A>G
XR_241502.2:n.909-2A>G
XR_241502.3:n.855-2A>G
XR_924159.1:n.909-2A>G