Canonical Allele Identifier: CA88712189

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183056974C>T , CM000665.2:g.183056974C>T	GRCh38
NC_000003.11:g.182774762C>T , CM000665.1:g.182774762C>T	GRCh37
NC_000003.10:g.184257456C>T	NCBI36
NG_008100.1:g.47604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.873+337G>A MANE Select	ENSP00000265594.4:n.873+337G>A
ENST00000265594.8:c.873+337G>A	ENSP00000265594.4:n.873+337G>A
ENST00000476176.5:c.732+337G>A	ENSP00000420433.1:n.732+337G>A
ENST00000492597.5:c.546+337G>A	ENSP00000419898.1:n.546+337G>A
ENST00000495767.5:c.*454+337G>A	ENSP00000419658.1:n.*454+337G>A
ENST00000497830.5:c.*470+337G>A	ENSP00000420088.1:n.*470+337G>A
ENST00000497959.5:c.759+337G>A	ENSP00000420648.1:n.759+337G>A
ENST00000539926.5:c.423+337G>A	ENSP00000441253.2:n.423+337G>A
ENST00000610757.4:c.423+337G>A	ENSP00000480435.1:n.423+337G>A
ENST00000629669.2:c.759+337G>A	ENSP00000486824.1:n.759+337G>A
NM_001293273.1:c.522+337G>A	NP_001280202.1:n.522+337G>A
NM_020166.4:c.873+337G>A	NP_064551.3:n.873+337G>A
NR_120639.1:n.787+337G>A
NR_120640.1:n.1540+337G>A
XM_006713702.1:c.546+337G>A	XP_006713765.1:n.546+337G>A
XM_011512992.1:c.759+337G>A	XP_011511294.1:n.759+337G>A
XM_011512993.1:c.873+337G>A	XP_011511295.1:n.873+337G>A
XR_241502.2:n.1020+337G>A
XR_924159.1:n.1020+337G>A
NM_001363880.1:c.546+337G>A	NP_001350809.1:n.546+337G>A
XM_011512992.2:c.759+337G>A	XP_011511294.1:n.759+337G>A
XR_001740207.2:n.996+337G>A
XR_001740208.2:n.996+337G>A
XR_001740209.2:n.966+337G>A
XR_001740210.1:n.826+337G>A
XR_002959553.1:n.996+337G>A
XR_002959554.1:n.996+337G>A
XR_241502.3:n.966+337G>A
NM_020166.5:c.873+337G>A MANE Select	NP_064551.3:n.873+337G>A
NM_001293273.2:c.522+337G>A	NP_001280202.1:n.522+337G>A
NR_120639.2:n.696+337G>A
NR_120640.2:n.1540+337G>A