Canonical Allele Identifier: CA275407

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183071122T>C , CM000665.2:g.183071122T>C	GRCh38
NC_000003.11:g.182788910T>C , CM000665.1:g.182788910T>C	GRCh37
NC_000003.10:g.184271604T>C	NCBI36
NG_008100.1:g.33456A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.640-2A>G MANE Select	NP_064551.3:n.640-2A>G
ENST00000265594.9:c.640-2A>G MANE Select	ENSP00000265594.4:n.640-2A>G
NM_001293273.1:c.289-2A>G	NP_001280202.1:n.289-2A>G
NM_001293273.2:c.289-2A>G	NP_001280202.1:n.289-2A>G
NM_001363880.1:c.313-2A>G	NP_001350809.1:n.313-2A>G
NM_020166.4:c.640-2A>G	NP_064551.3:n.640-2A>G
NR_120639.1:n.554-2A>G
NR_120639.2:n.463-2A>G
NR_120640.1:n.1307-2A>G
NR_120640.2:n.1307-2A>G
ENST00000265594.8:c.640-2A>G	ENSP00000265594.4:n.640-2A>G
ENST00000466650.5:c.*259A>G	ENSP00000418979.1:n.*259A>G
ENST00000476176.5:c.499-2A>G	ENSP00000420433.1:n.499-2A>G
ENST00000487634.5:c.*221-2A>G	ENSP00000420591.1:n.*221-2A>G
ENST00000490284.5:c.*189-2A>G	ENSP00000419328.1:n.*189-2A>G
ENST00000492597.5:c.313-2A>G	ENSP00000419898.1:n.313-2A>G
ENST00000495767.5:c.*221-2A>G	ENSP00000419658.1:n.*221-2A>G
ENST00000497830.5:c.*237-2A>G	ENSP00000420088.1:n.*237-2A>G
ENST00000497959.5:c.526-2A>G	ENSP00000420648.1:n.526-2A>G
ENST00000539926.5:c.190-2A>G	ENSP00000441253.2:n.190-2A>G
ENST00000610757.4:c.190-2A>G	ENSP00000480435.1:n.190-2A>G
ENST00000629669.2:c.526-2A>G	ENSP00000486824.1:n.526-2A>G
XM_006713702.1:c.313-2A>G	XP_006713765.1:n.313-2A>G
XM_011512992.1:c.526-2A>G	XP_011511294.1:n.526-2A>G
XM_011512992.2:c.526-2A>G	XP_011511294.1:n.526-2A>G
XM_011512993.1:c.640-2A>G	XP_011511295.1:n.640-2A>G
XR_001740207.2:n.763-2A>G
XR_001740208.2:n.763-2A>G
XR_001740209.2:n.733-2A>G
XR_001740210.1:n.593-2A>G
XR_002959553.1:n.763-2A>G
XR_002959554.1:n.763-2A>G
XR_241502.2:n.787-2A>G
XR_241502.3:n.733-2A>G
XR_924159.1:n.787-2A>G