Canonical Allele Identifier: CA355325292

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183045493C>A , CM000665.2:g.183045493C>A	GRCh38
NC_000003.11:g.182763281C>A , CM000665.1:g.182763281C>A	GRCh37
NC_000003.10:g.184245975C>A	NCBI36
NG_008100.1:g.59085G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1003G>T MANE Select	NP_064551.3:p.Glu335Ter
ENST00000265594.9:c.1003G>T MANE Select	ENSP00000265594.4:p.Glu335Ter
NM_001293273.1:c.652G>T	NP_001280202.1:p.Glu218Ter
NM_001293273.2:c.652G>T	NP_001280202.1:p.Glu218Ter
NM_001363880.1:c.676G>T	NP_001350809.1:p.Glu226Ter
NM_020166.4:c.1003G>T	NP_064551.3:p.Glu335Ter
NR_120639.1:n.917G>T
NR_120639.2:n.826G>T
NR_120640.1:n.1670G>T
NR_120640.2:n.1670G>T
ENST00000265594.8:c.1003G>T	ENSP00000265594.4:p.Glu335Ter
ENST00000476176.5:c.862G>T	ENSP00000420433.1:p.Glu288Ter
ENST00000492597.5:c.676G>T	ENSP00000419898.1:p.Glu226Ter
ENST00000495767.5:c.*584G>T	ENSP00000419658.1:n.*584G>T
ENST00000497830.5:c.*600G>T	ENSP00000420088.1:n.*600G>T
ENST00000497959.5:c.889G>T	ENSP00000420648.1:p.Glu297Ter
ENST00000539926.5:c.553G>T	ENSP00000441253.2:p.Glu185Ter
ENST00000610757.4:c.553G>T	ENSP00000480435.1:p.Glu185Ter
ENST00000629669.2:c.889G>T	ENSP00000486824.1:p.Glu297Ter
XM_006713702.1:c.676G>T	XP_006713765.1:p.Glu226Ter
XM_011512992.1:c.889G>T	XP_011511294.1:p.Glu297Ter
XM_011512992.2:c.889G>T	XP_011511294.1:p.Glu297Ter
XM_011512993.1:c.1003G>T	XP_011511295.1:p.Glu335Ter
XR_001740207.2:n.1126G>T
XR_001740208.2:n.1126G>T
XR_001740209.2:n.1096G>T
XR_001740210.1:n.956G>T
XR_002959553.1:n.1126G>T
XR_002959554.1:n.1126G>T
XR_241502.2:n.1150G>T
XR_241502.3:n.1096G>T
XR_924159.1:n.1150G>T