Canonical Allele Identifier: CA355325197

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183045480C>A , CM000665.2:g.183045480C>A	GRCh38
NC_000003.11:g.182763268C>A , CM000665.1:g.182763268C>A	GRCh37
NC_000003.10:g.184245962C>A	NCBI36
NG_008100.1:g.59098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1016G>T MANE Select	ENSP00000265594.4:p.Arg339Met
ENST00000265594.8:c.1016G>T	ENSP00000265594.4:p.Arg339Met
ENST00000476176.5:c.875G>T	ENSP00000420433.1:p.Arg292Met
ENST00000492597.5:c.689G>T	ENSP00000419898.1:p.Arg230Met
ENST00000495767.5:c.*597G>T	ENSP00000419658.1:n.*597G>T
ENST00000497830.5:c.*613G>T	ENSP00000420088.1:n.*613G>T
ENST00000497959.5:c.902G>T	ENSP00000420648.1:p.Arg301Met
ENST00000539926.5:c.566G>T	ENSP00000441253.2:p.Arg189Met
ENST00000610757.4:c.566G>T	ENSP00000480435.1:p.Arg189Met
ENST00000629669.2:c.902G>T	ENSP00000486824.1:p.Arg301Met
NM_001293273.1:c.665G>T	NP_001280202.1:p.Arg222Met
NM_020166.4:c.1016G>T	NP_064551.3:p.Arg339Met
NR_120639.1:n.930G>T
NR_120640.1:n.1683G>T
XM_006713702.1:c.689G>T	XP_006713765.1:p.Arg230Met
XM_011512992.1:c.902G>T	XP_011511294.1:p.Arg301Met
XM_011512993.1:c.1016G>T	XP_011511295.1:p.Arg339Met
XR_241502.2:n.1163G>T
XR_924159.1:n.1163G>T
NM_001363880.1:c.689G>T	NP_001350809.1:p.Arg230Met
XM_011512992.2:c.902G>T	XP_011511294.1:p.Arg301Met
XR_001740207.2:n.1139G>T
XR_001740208.2:n.1139G>T
XR_001740209.2:n.1109G>T
XR_001740210.1:n.969G>T
XR_002959553.1:n.1139G>T
XR_002959554.1:n.1139G>T
XR_241502.3:n.1109G>T
NM_020166.5:c.1016G>T MANE Select	NP_064551.3:p.Arg339Met
NM_001293273.2:c.665G>T	NP_001280202.1:p.Arg222Met
NR_120639.2:n.839G>T
NR_120640.2:n.1683G>T