Canonical Allele Identifier: CA2719025

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183071208A>T , CM000665.2:g.183071208A>T	GRCh38
NC_000003.11:g.182788996A>T , CM000665.1:g.182788996A>T	GRCh37
NC_000003.10:g.184271690A>T	NCBI36
NG_008100.1:g.33370T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.639+2T>A MANE Select	NP_064551.3:n.639+2T>A
ENST00000265594.9:c.639+2T>A MANE Select	ENSP00000265594.4:n.639+2T>A
NM_001293273.1:c.288+2T>A	NP_001280202.1:n.288+2T>A
NM_001293273.2:c.288+2T>A	NP_001280202.1:n.288+2T>A
NM_001363880.1:c.312+2T>A	NP_001350809.1:n.312+2T>A
NM_020166.4:c.639+2T>A	NP_064551.3:n.639+2T>A
NR_120639.1:n.553+2T>A
NR_120639.2:n.462+2T>A
NR_120640.1:n.1306+2T>A
NR_120640.2:n.1306+2T>A
ENST00000265594.8:c.639+2T>A	ENSP00000265594.4:n.639+2T>A
ENST00000466650.5:c.*236+2T>A	ENSP00000418979.1:n.*236+2T>A
ENST00000476176.5:c.498+2T>A	ENSP00000420433.1:n.498+2T>A
ENST00000487634.5:c.*220+2T>A	ENSP00000420591.1:n.*220+2T>A
ENST00000490284.5:c.*188+2T>A	ENSP00000419328.1:n.*188+2T>A
ENST00000492597.5:c.312+2T>A	ENSP00000419898.1:n.312+2T>A
ENST00000495767.5:c.*220+2T>A	ENSP00000419658.1:n.*220+2T>A
ENST00000497830.5:c.*236+2T>A	ENSP00000420088.1:n.*236+2T>A
ENST00000497959.5:c.525+2T>A	ENSP00000420648.1:n.525+2T>A
ENST00000539926.5:c.189+2T>A	ENSP00000441253.2:n.189+2T>A
ENST00000610757.4:c.189+2T>A	ENSP00000480435.1:n.189+2T>A
ENST00000629669.2:c.525+2T>A	ENSP00000486824.1:n.525+2T>A
XM_006713702.1:c.312+2T>A	XP_006713765.1:n.312+2T>A
XM_011512992.1:c.525+2T>A	XP_011511294.1:n.525+2T>A
XM_011512992.2:c.525+2T>A	XP_011511294.1:n.525+2T>A
XM_011512993.1:c.639+2T>A	XP_011511295.1:n.639+2T>A
XR_001740207.2:n.762+2T>A
XR_001740208.2:n.762+2T>A
XR_001740209.2:n.732+2T>A
XR_001740210.1:n.592+2T>A
XR_002959553.1:n.762+2T>A
XR_002959554.1:n.762+2T>A
XR_241502.2:n.786+2T>A
XR_241502.3:n.732+2T>A
XR_924159.1:n.786+2T>A