Canonical Allele Identifier: CA2718612

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183020166G>A , CM000665.2:g.183020166G>A	GRCh38
NC_000003.11:g.182737954G>A , CM000665.1:g.182737954G>A	GRCh37
NC_000003.10:g.184220648G>A	NCBI36
NG_008100.1:g.84412C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1941C>T MANE Select	NP_064551.3:p.Gly647=
ENST00000265594.9:c.1941C>T MANE Select	ENSP00000265594.4:p.Gly647=
NM_001293273.1:c.1590C>T	NP_001280202.1:p.Gly530=
NM_001293273.2:c.1590C>T	NP_001280202.1:p.Gly530=
NM_001363880.1:c.1614C>T	NP_001350809.1:p.Gly538=
NM_020166.4:c.1941C>T	NP_064551.3:p.Gly647=
NR_120639.1:n.1805C>T
NR_120639.2:n.1714C>T
NR_120640.1:n.2488C>T
NR_120640.2:n.2488C>T
ENST00000265594.8:c.1941C>T	ENSP00000265594.4:p.Gly647=
ENST00000464601.5:n.373C>T
ENST00000492597.5:c.1614C>T	ENSP00000419898.1:p.Gly538=
ENST00000495767.5:c.*1472C>T	ENSP00000419658.1:n.*1472C>T
ENST00000497830.5:c.*1538C>T	ENSP00000420088.1:n.*1538C>T
ENST00000497959.5:c.*402C>T	ENSP00000420648.1:n.*402C>T
ENST00000539926.5:c.1491C>T	ENSP00000441253.2:p.Gly497=
ENST00000610757.4:c.1491C>T	ENSP00000480435.1:p.Gly497=
ENST00000629669.2:c.*305C>T	ENSP00000486824.1:n.*305C>T
XM_006713702.1:c.1614C>T	XP_006713765.1:p.Gly538=
XM_011512992.1:c.1827C>T	XP_011511294.1:p.Gly609=
XM_011512992.2:c.1827C>T	XP_011511294.1:p.Gly609=
XR_001740207.2:n.2161C>T
XR_001740208.2:n.2014C>T
XR_001740209.2:n.1767C>T
XR_001740210.1:n.1844C>T
XR_241502.2:n.1871C>T
XR_241502.3:n.1817C>T