Canonical Allele Identifier: CA2719040

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183071279G>T , CM000665.2:g.183071279G>T	GRCh38
NC_000003.11:g.182789067G>T , CM000665.1:g.182789067G>T	GRCh37
NC_000003.10:g.184271761G>T	NCBI36
NG_008100.1:g.33299C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.570C>A MANE Select	NP_064551.3:p.Cys190Ter
ENST00000265594.9:c.570C>A MANE Select	ENSP00000265594.4:p.Cys190Ter
NM_001293273.1:c.219C>A	NP_001280202.1:p.Cys73Ter
NM_001293273.2:c.219C>A	NP_001280202.1:p.Cys73Ter
NM_001363880.1:c.243C>A	NP_001350809.1:p.Cys81Ter
NM_020166.4:c.570C>A	NP_064551.3:p.Cys190Ter
NR_120639.1:n.484C>A
NR_120639.2:n.393C>A
NR_120640.1:n.1237C>A
NR_120640.2:n.1237C>A
ENST00000265594.8:c.570C>A	ENSP00000265594.4:p.Cys190Ter
ENST00000466650.5:c.*167C>A	ENSP00000418979.1:n.*167C>A
ENST00000476176.5:c.429C>A	ENSP00000420433.1:p.Cys143Ter
ENST00000487634.5:c.*151C>A	ENSP00000420591.1:n.*151C>A
ENST00000490284.5:c.*119C>A	ENSP00000419328.1:n.*119C>A
ENST00000492597.5:c.243C>A	ENSP00000419898.1:p.Cys81Ter
ENST00000495767.5:c.*151C>A	ENSP00000419658.1:n.*151C>A
ENST00000497830.5:c.*167C>A	ENSP00000420088.1:n.*167C>A
ENST00000497959.5:c.456C>A	ENSP00000420648.1:p.Cys152Ter
ENST00000539926.5:c.120C>A	ENSP00000441253.2:p.Cys40Ter
ENST00000610757.4:c.120C>A	ENSP00000480435.1:p.Cys40Ter
ENST00000629669.2:c.456C>A	ENSP00000486824.1:p.Cys152Ter
XM_006713702.1:c.243C>A	XP_006713765.1:p.Cys81Ter
XM_011512992.1:c.456C>A	XP_011511294.1:p.Cys152Ter
XM_011512992.2:c.456C>A	XP_011511294.1:p.Cys152Ter
XM_011512993.1:c.570C>A	XP_011511295.1:p.Cys190Ter
XR_001740207.2:n.693C>A
XR_001740208.2:n.693C>A
XR_001740209.2:n.663C>A
XR_001740210.1:n.523C>A
XR_002959553.1:n.693C>A
XR_002959554.1:n.693C>A
XR_241502.2:n.717C>A
XR_241502.3:n.663C>A
XR_924159.1:n.717C>A