Canonical Allele Identifier: CA2718925

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183052169A>T , CM000665.2:g.183052169A>T	GRCh38
NC_000003.11:g.182769957A>T , CM000665.1:g.182769957A>T	GRCh37
NC_000003.10:g.184252651A>T	NCBI36
NG_008100.1:g.52409T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.945T>A MANE Select	NP_064551.3:p.Tyr315Ter
ENST00000265594.9:c.945T>A MANE Select	ENSP00000265594.4:p.Tyr315Ter
NM_001293273.1:c.594T>A	NP_001280202.1:p.Tyr198Ter
NM_001293273.2:c.594T>A	NP_001280202.1:p.Tyr198Ter
NM_001363880.1:c.618T>A	NP_001350809.1:p.Tyr206Ter
NM_020166.4:c.945T>A	NP_064551.3:p.Tyr315Ter
NR_120639.1:n.859T>A
NR_120639.2:n.768T>A
NR_120640.1:n.1612T>A
NR_120640.2:n.1612T>A
ENST00000265594.8:c.945T>A	ENSP00000265594.4:p.Tyr315Ter
ENST00000476176.5:c.804T>A	ENSP00000420433.1:p.Tyr268Ter
ENST00000492597.5:c.618T>A	ENSP00000419898.1:p.Tyr206Ter
ENST00000495767.5:c.*526T>A	ENSP00000419658.1:n.*526T>A
ENST00000497830.5:c.*542T>A	ENSP00000420088.1:n.*542T>A
ENST00000497959.5:c.831T>A	ENSP00000420648.1:p.Tyr277Ter
ENST00000539926.5:c.495T>A	ENSP00000441253.2:p.Tyr165Ter
ENST00000610757.4:c.495T>A	ENSP00000480435.1:p.Tyr165Ter
ENST00000629669.2:c.831T>A	ENSP00000486824.1:p.Tyr277Ter
XM_006713702.1:c.618T>A	XP_006713765.1:p.Tyr206Ter
XM_011512992.1:c.831T>A	XP_011511294.1:p.Tyr277Ter
XM_011512992.2:c.831T>A	XP_011511294.1:p.Tyr277Ter
XM_011512993.1:c.945T>A	XP_011511295.1:p.Tyr315Ter
XR_001740207.2:n.1068T>A
XR_001740208.2:n.1068T>A
XR_001740209.2:n.1038T>A
XR_001740210.1:n.898T>A
XR_002959553.1:n.1068T>A
XR_002959554.1:n.1068T>A
XR_241502.2:n.1092T>A
XR_241502.3:n.1038T>A
XR_924159.1:n.1092T>A