Canonical Allele Identifier: CA2718707

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183033986C>T , CM000665.2:g.183033986C>T	GRCh38
NC_000003.11:g.182751774C>T , CM000665.1:g.182751774C>T	GRCh37
NC_000003.10:g.184234468C>T	NCBI36
NG_008100.1:g.70592G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1681+5G>A MANE Select	NP_064551.3:n.1681+5G>A
ENST00000265594.9:c.1681+5G>A MANE Select	ENSP00000265594.4:n.1681+5G>A
NM_001293273.1:c.1330+5G>A	NP_001280202.1:n.1330+5G>A
NM_001293273.2:c.1330+5G>A	NP_001280202.1:n.1330+5G>A
NM_001363880.1:c.1354+5G>A	NP_001350809.1:n.1354+5G>A
NM_020166.4:c.1681+5G>A	NP_064551.3:n.1681+5G>A
NR_120639.1:n.1595+5G>A
NR_120639.2:n.1504+5G>A
NR_120640.1:n.2131+5G>A
NR_120640.2:n.2131+5G>A
ENST00000265594.8:c.1681+5G>A	ENSP00000265594.4:n.1681+5G>A
ENST00000476176.5:c.1540+5G>A	ENSP00000420433.1:n.1540+5G>A
ENST00000489909.1:n.225+5G>A
ENST00000492597.5:c.1354+5G>A	ENSP00000419898.1:n.1354+5G>A
ENST00000495767.5:c.*1262+5G>A	ENSP00000419658.1:n.*1262+5G>A
ENST00000497830.5:c.*1278+5G>A	ENSP00000420088.1:n.*1278+5G>A
ENST00000497959.5:c.*45+5G>A	ENSP00000420648.1:n.*45+5G>A
ENST00000539926.5:c.1231+5G>A	ENSP00000441253.2:n.1231+5G>A
ENST00000610757.4:c.1231+5G>A	ENSP00000480435.1:n.1231+5G>A
ENST00000629669.2:c.*45+5G>A	ENSP00000486824.1:n.*45+5G>A
XM_006713702.1:c.1354+5G>A	XP_006713765.1:n.1354+5G>A
XM_011512992.1:c.1567+5G>A	XP_011511294.1:n.1567+5G>A
XM_011512992.2:c.1567+5G>A	XP_011511294.1:n.1567+5G>A
XM_011512993.1:c.*45+5G>A	XP_011511295.1:n.*45+5G>A
XR_001740207.2:n.1804+5G>A
XR_001740208.2:n.1804+5G>A
XR_001740209.2:n.1557+5G>A
XR_001740210.1:n.1634+5G>A
XR_002959553.1:n.1809G>A
XR_002959554.1:n.1587+5G>A
XR_241502.2:n.1611+5G>A
XR_241502.3:n.1557+5G>A
XR_924159.1:n.1828+5G>A