Canonical Allele Identifier: CA312675

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183057343G>A , CM000665.2:g.183057343G>A	GRCh38
NC_000003.11:g.182775131G>A , CM000665.1:g.182775131G>A	GRCh37
NC_000003.10:g.184257825G>A	NCBI36
NG_008100.1:g.47235C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.841C>T MANE Select	NP_064551.3:p.Arg281Ter
ENST00000265594.9:c.841C>T MANE Select	ENSP00000265594.4:p.Arg281Ter
NM_001293273.1:c.490C>T	NP_001280202.1:p.Arg164Ter
NM_001293273.2:c.490C>T	NP_001280202.1:p.Arg164Ter
NM_001363880.1:c.514C>T	NP_001350809.1:p.Arg172Ter
NM_020166.4:c.841C>T	NP_064551.3:p.Arg281Ter
NR_120639.1:n.755C>T
NR_120639.2:n.664C>T
NR_120640.1:n.1508C>T
NR_120640.2:n.1508C>T
ENST00000265594.8:c.841C>T	ENSP00000265594.4:p.Arg281Ter
ENST00000476176.5:c.700C>T	ENSP00000420433.1:p.Arg234Ter
ENST00000492597.5:c.514C>T	ENSP00000419898.1:p.Arg172Ter
ENST00000495767.5:c.*422C>T	ENSP00000419658.1:n.*422C>T
ENST00000497830.5:c.*438C>T	ENSP00000420088.1:n.*438C>T
ENST00000497959.5:c.727C>T	ENSP00000420648.1:p.Arg243Ter
ENST00000539926.5:c.391C>T	ENSP00000441253.2:p.Arg131Ter
ENST00000610757.4:c.391C>T	ENSP00000480435.1:p.Arg131Ter
ENST00000629669.2:c.727C>T	ENSP00000486824.1:p.Arg243Ter
XM_006713702.1:c.514C>T	XP_006713765.1:p.Arg172Ter
XM_011512992.1:c.727C>T	XP_011511294.1:p.Arg243Ter
XM_011512992.2:c.727C>T	XP_011511294.1:p.Arg243Ter
XM_011512993.1:c.841C>T	XP_011511295.1:p.Arg281Ter
XR_001740207.2:n.964C>T
XR_001740208.2:n.964C>T
XR_001740209.2:n.934C>T
XR_001740210.1:n.794C>T
XR_002959553.1:n.964C>T
XR_002959554.1:n.964C>T
XR_241502.2:n.988C>T
XR_241502.3:n.934C>T
XR_924159.1:n.988C>T