Canonical Allele Identifier: CA1425376494

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183020121T>C , CM000665.2:g.183020121T>C	GRCh38
NC_000003.11:g.182737909T>C , CM000665.1:g.182737909T>C	GRCh37
NC_000003.10:g.184220603T>C	NCBI36
NG_008100.1:g.84457A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1977+9A>G MANE Select	NP_064551.3:n.1977+9A>G
ENST00000265594.9:c.1977+9A>G MANE Select	ENSP00000265594.4:n.1977+9A>G
NM_001293273.1:c.1626+9A>G	NP_001280202.1:n.1626+9A>G
NM_001293273.2:c.1626+9A>G	NP_001280202.1:n.1626+9A>G
NM_001363880.1:c.1650+9A>G	NP_001350809.1:n.1650+9A>G
NM_020166.4:c.1977+9A>G	NP_064551.3:n.1977+9A>G
NR_120639.1:n.1841+9A>G
NR_120639.2:n.1750+9A>G
NR_120640.1:n.2524+9A>G
NR_120640.2:n.2524+9A>G
ENST00000265594.8:c.1977+9A>G	ENSP00000265594.4:n.1977+9A>G
ENST00000464601.5:n.409+9A>G
ENST00000492597.5:c.1650+9A>G	ENSP00000419898.1:n.1650+9A>G
ENST00000495767.5:c.*1508+9A>G	ENSP00000419658.1:n.*1508+9A>G
ENST00000497830.5:c.*1574+9A>G	ENSP00000420088.1:n.*1574+9A>G
ENST00000497959.5:c.*438+9A>G	ENSP00000420648.1:n.*438+9A>G
ENST00000539926.5:c.1527+9A>G	ENSP00000441253.2:n.1527+9A>G
ENST00000610757.4:c.1527+9A>G	ENSP00000480435.1:n.1527+9A>G
ENST00000629669.2:c.*341+9A>G	ENSP00000486824.1:n.*341+9A>G
XM_006713702.1:c.1650+9A>G	XP_006713765.1:n.1650+9A>G
XM_011512992.1:c.1863+9A>G	XP_011511294.1:n.1863+9A>G
XM_011512992.2:c.1863+9A>G	XP_011511294.1:n.1863+9A>G
XR_001740207.2:n.2197+9A>G
XR_001740208.2:n.2050+9A>G
XR_001740209.2:n.1803+9A>G
XR_001740210.1:n.1880+9A>G
XR_241502.2:n.1907+9A>G
XR_241502.3:n.1853+9A>G