Canonical Allele Identifier: CA2719070

Gene: MCCC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183072370T>G , CM000665.2:g.183072370T>G	GRCh38
NC_000003.11:g.182790158T>G , CM000665.1:g.182790158T>G	GRCh37
NC_000003.10:g.184272852T>G	NCBI36
NG_008100.1:g.32208A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.487A>C MANE Select	ENSP00000265594.4:p.Lys163Gln
ENST00000265594.8:c.487A>C	ENSP00000265594.4:p.Lys163Gln
ENST00000466650.5:c.*89-1013A>C	ENSP00000418979.1:n.*89-1013A>C
ENST00000476176.5:c.346A>C	ENSP00000420433.1:p.Lys116Gln
ENST00000487634.5:c.*68A>C	ENSP00000420591.1:n.*68A>C
ENST00000490284.5:c.*36A>C	ENSP00000419328.1:n.*36A>C
ENST00000492597.5:c.160A>C	ENSP00000419898.1:p.Lys54Gln
ENST00000495767.5:c.*68A>C	ENSP00000419658.1:n.*68A>C
ENST00000497830.5:c.*89-1013A>C	ENSP00000420088.1:n.*89-1013A>C
ENST00000497959.5:c.373A>C	ENSP00000420648.1:p.Lys125Gln
ENST00000539926.5:c.43-1013A>C	ENSP00000441253.2:n.43-1013A>C
ENST00000610757.4:c.43-1013A>C	ENSP00000480435.1:n.43-1013A>C
ENST00000629669.2:c.373A>C	ENSP00000486824.1:p.Lys125Gln
NM_001293273.1:c.141-1013A>C	NP_001280202.1:n.141-1013A>C
NM_020166.4:c.487A>C	NP_064551.3:p.Lys163Gln
NR_120639.1:n.401A>C
NR_120640.1:n.1154A>C
XM_006713702.1:c.160A>C	XP_006713765.1:p.Lys54Gln
XM_011512992.1:c.373A>C	XP_011511294.1:p.Lys125Gln
XM_011512993.1:c.487A>C	XP_011511295.1:p.Lys163Gln
XR_241502.2:n.634A>C
XR_924159.1:n.634A>C
NM_001363880.1:c.160A>C	NP_001350809.1:p.Lys54Gln
XM_011512992.2:c.373A>C	XP_011511294.1:p.Lys125Gln
XR_001740207.2:n.610A>C
XR_001740208.2:n.610A>C
XR_001740209.2:n.580A>C
XR_001740210.1:n.440A>C
XR_002959553.1:n.610A>C
XR_002959554.1:n.610A>C
XR_241502.3:n.580A>C
NM_020166.5:c.487A>C MANE Select	NP_064551.3:p.Lys163Gln
NM_001293273.2:c.141-1013A>C	NP_001280202.1:n.141-1013A>C
NR_120639.2:n.310A>C
NR_120640.2:n.1154A>C