Canonical Allele Identifier: CA88691256

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183022416C>T , CM000665.2:g.183022416C>T	GRCh38
NC_000003.11:g.182740204C>T , CM000665.1:g.182740204C>T	GRCh37
NC_000003.10:g.184222898C>T	NCBI36
NG_008100.1:g.82162G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1869+1G>A MANE Select	NP_064551.3:n.1869+1G>A
ENST00000265594.9:c.1869+1G>A MANE Select	ENSP00000265594.4:n.1869+1G>A
NM_001293273.1:c.1518+1G>A	NP_001280202.1:n.1518+1G>A
NM_001293273.2:c.1518+1G>A	NP_001280202.1:n.1518+1G>A
NM_001363880.1:c.1542+1G>A	NP_001350809.1:n.1542+1G>A
NM_020166.4:c.1869+1G>A	NP_064551.3:n.1869+1G>A
NR_120639.1:n.1733+1G>A
NR_120639.2:n.1642+1G>A
NR_120640.1:n.2416+1G>A
NR_120640.2:n.2416+1G>A
ENST00000265594.8:c.1869+1G>A	ENSP00000265594.4:n.1869+1G>A
ENST00000464601.5:n.301+1G>A
ENST00000476176.5:c.1728+1G>A	ENSP00000420433.1:n.1728+1G>A
ENST00000492597.5:c.1542+1G>A	ENSP00000419898.1:n.1542+1G>A
ENST00000495767.5:c.*1400+1G>A	ENSP00000419658.1:n.*1400+1G>A
ENST00000497830.5:c.*1466+1G>A	ENSP00000420088.1:n.*1466+1G>A
ENST00000497959.5:c.*330+1G>A	ENSP00000420648.1:n.*330+1G>A
ENST00000539926.5:c.1419+1G>A	ENSP00000441253.2:n.1419+1G>A
ENST00000610757.4:c.1419+1G>A	ENSP00000480435.1:n.1419+1G>A
ENST00000629669.2:c.*233+1G>A	ENSP00000486824.1:n.*233+1G>A
XM_006713702.1:c.1542+1G>A	XP_006713765.1:n.1542+1G>A
XM_011512992.1:c.1755+1G>A	XP_011511294.1:n.1755+1G>A
XM_011512992.2:c.1755+1G>A	XP_011511294.1:n.1755+1G>A
XR_001740207.2:n.2089+1G>A
XR_001740208.2:n.1942+1G>A
XR_001740209.2:n.1695+1G>A
XR_001740210.1:n.1772+1G>A
XR_241502.2:n.1799+1G>A
XR_241502.3:n.1745+1G>A