Canonical Allele Identifier: CA355322215

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183041570G>A , CM000665.2:g.183041570G>A	GRCh38
NC_000003.11:g.182759358G>A , CM000665.1:g.182759358G>A	GRCh37
NC_000003.10:g.184242052G>A	NCBI36
NG_008100.1:g.63008C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1264C>T MANE Select	NP_064551.3:p.Gln422Ter
ENST00000265594.9:c.1264C>T MANE Select	ENSP00000265594.4:p.Gln422Ter
NM_001293273.1:c.913C>T	NP_001280202.1:p.Gln305Ter
NM_001293273.2:c.913C>T	NP_001280202.1:p.Gln305Ter
NM_001363880.1:c.937C>T	NP_001350809.1:p.Gln313Ter
NM_020166.4:c.1264C>T	NP_064551.3:p.Gln422Ter
NR_120639.1:n.1178C>T
NR_120639.2:n.1087C>T
NR_120640.1:n.1931C>T
NR_120640.2:n.1931C>T
ENST00000265594.8:c.1264C>T	ENSP00000265594.4:p.Gln422Ter
ENST00000476176.5:c.1123C>T	ENSP00000420433.1:p.Gln375Ter
ENST00000492597.5:c.937C>T	ENSP00000419898.1:p.Gln313Ter
ENST00000495767.5:c.*845C>T	ENSP00000419658.1:n.*845C>T
ENST00000497830.5:c.*861C>T	ENSP00000420088.1:n.*861C>T
ENST00000497959.5:c.1150C>T	ENSP00000420648.1:p.Gln384Ter
ENST00000539926.5:c.814C>T	ENSP00000441253.2:p.Gln272Ter
ENST00000610757.4:c.814C>T	ENSP00000480435.1:p.Gln272Ter
ENST00000629669.2:c.1150C>T	ENSP00000486824.1:p.Gln384Ter
XM_006713702.1:c.937C>T	XP_006713765.1:p.Gln313Ter
XM_011512992.1:c.1150C>T	XP_011511294.1:p.Gln384Ter
XM_011512992.2:c.1150C>T	XP_011511294.1:p.Gln384Ter
XM_011512993.1:c.1264C>T	XP_011511295.1:p.Gln422Ter
XR_001740207.2:n.1387C>T
XR_001740208.2:n.1387C>T
XR_001740209.2:n.1357C>T
XR_001740210.1:n.1217C>T
XR_002959553.1:n.1387C>T
XR_002959554.1:n.1387C>T
XR_241502.2:n.1411C>T
XR_241502.3:n.1357C>T
XR_924159.1:n.1411C>T