Canonical Allele Identifier: CA2718556

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183015531C>T , CM000665.2:g.183015531C>T	GRCh38
NC_000003.11:g.182733319C>T , CM000665.1:g.182733319C>T	GRCh37
NC_000003.10:g.184216013C>T	NCBI36
NG_008100.1:g.89047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2085G>A MANE Select	ENSP00000265594.4:p.Lys695=
ENST00000265594.8:c.2085G>A	ENSP00000265594.4:p.Lys695=
ENST00000464601.5:n.517G>A
ENST00000492597.5:c.1758G>A	ENSP00000419898.1:p.Lys586=
ENST00000497830.5:c.*1682G>A	ENSP00000420088.1:n.*1682G>A
ENST00000497959.5:c.*546G>A	ENSP00000420648.1:n.*546G>A
ENST00000539926.5:c.1635G>A	ENSP00000441253.2:p.Lys545=
ENST00000610757.4:c.1635G>A	ENSP00000480435.1:p.Lys545=
ENST00000629669.2:c.*449G>A	ENSP00000486824.1:n.*449G>A
NM_001293273.1:c.1734G>A	NP_001280202.1:p.Lys578=
NM_020166.4:c.2085G>A	NP_064551.3:p.Lys695=
NR_120639.1:n.1949G>A
NR_120640.1:n.2632G>A
XM_006713702.1:c.1758G>A	XP_006713765.1:p.Lys586=
XM_011512992.1:c.1971G>A	XP_011511294.1:p.Lys657=
XR_241502.2:n.2015G>A
NM_001363880.1:c.1758G>A	NP_001350809.1:p.Lys586=
XM_011512992.2:c.1971G>A	XP_011511294.1:p.Lys657=
XR_001740207.2:n.2305G>A
XR_001740208.2:n.2158G>A
XR_001740209.2:n.1911G>A
XR_001740210.1:n.1988G>A
XR_241502.3:n.1961G>A
NM_020166.5:c.2085G>A MANE Select	NP_064551.3:p.Lys695=
NM_001293273.2:c.1734G>A	NP_001280202.1:p.Lys578=
NR_120639.2:n.1858G>A
NR_120640.2:n.2632G>A