Canonical Allele Identifier: CA355321944

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756866G>T (hg19) ; chr3:g.183039078G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039078G>T , CM000665.2:g.183039078G>T	GRCh38
NC_000003.11:g.182756866G>T , CM000665.1:g.182756866G>T	GRCh37
NC_000003.10:g.184239560G>T	NCBI36
NG_008100.1:g.65500C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1325C>A MANE Select	ENSP00000265594.4:p.Ala442Glu
ENST00000265594.8:c.1325C>A	ENSP00000265594.4:p.Ala442Glu
ENST00000476176.5:c.1184C>A	ENSP00000420433.1:p.Ala395Glu
ENST00000492597.5:c.998C>A	ENSP00000419898.1:p.Ala333Glu
ENST00000495767.5:c.*906C>A	ENSP00000419658.1:n.*906C>A
ENST00000497830.5:c.*922C>A	ENSP00000420088.1:n.*922C>A
ENST00000497959.5:c.1211C>A	ENSP00000420648.1:p.Ala404Glu
ENST00000539926.5:c.875C>A	ENSP00000441253.2:p.Ala292Glu
ENST00000610757.4:c.875C>A	ENSP00000480435.1:p.Ala292Glu
ENST00000629669.2:c.1211C>A	ENSP00000486824.1:p.Ala404Glu
NM_001293273.1:c.974C>A	NP_001280202.1:p.Ala325Glu
NM_020166.4:c.1325C>A	NP_064551.3:p.Ala442Glu
NR_120639.1:n.1239C>A
NR_120640.1:n.1992C>A
XM_006713702.1:c.998C>A	XP_006713765.1:p.Ala333Glu
XM_011512992.1:c.1211C>A	XP_011511294.1:p.Ala404Glu
XM_011512993.1:c.1325C>A	XP_011511295.1:p.Ala442Glu
XR_241502.2:n.1472C>A
XR_924159.1:n.1472C>A
NM_001363880.1:c.998C>A	NP_001350809.1:p.Ala333Glu
XM_011512992.2:c.1211C>A	XP_011511294.1:p.Ala404Glu
XR_001740207.2:n.1448C>A
XR_001740208.2:n.1448C>A
XR_001740209.2:n.1418C>A
XR_001740210.1:n.1278C>A
XR_002959553.1:n.1448C>A
XR_002959554.1:n.1448C>A
XR_241502.3:n.1418C>A
NM_020166.5:c.1325C>A MANE Select	NP_064551.3:p.Ala442Glu
NM_001293273.2:c.974C>A	NP_001280202.1:p.Ala325Glu
NR_120639.2:n.1148C>A
NR_120640.2:n.1992C>A