Canonical Allele Identifier: CA355322475

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183041609G>A , CM000665.2:g.183041609G>A	GRCh38
NC_000003.11:g.182759397G>A , CM000665.1:g.182759397G>A	GRCh37
NC_000003.10:g.184242091G>A	NCBI36
NG_008100.1:g.62969C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1225C>T MANE Select	NP_064551.3:p.Arg409Ter
ENST00000265594.9:c.1225C>T MANE Select	ENSP00000265594.4:p.Arg409Ter
NM_001293273.1:c.874C>T	NP_001280202.1:p.Arg292Ter
NM_001293273.2:c.874C>T	NP_001280202.1:p.Arg292Ter
NM_001363880.1:c.898C>T	NP_001350809.1:p.Arg300Ter
NM_020166.4:c.1225C>T	NP_064551.3:p.Arg409Ter
NR_120639.1:n.1139C>T
NR_120639.2:n.1048C>T
NR_120640.1:n.1892C>T
NR_120640.2:n.1892C>T
ENST00000265594.8:c.1225C>T	ENSP00000265594.4:p.Arg409Ter
ENST00000476176.5:c.1084C>T	ENSP00000420433.1:p.Arg362Ter
ENST00000492597.5:c.898C>T	ENSP00000419898.1:p.Arg300Ter
ENST00000495767.5:c.*806C>T	ENSP00000419658.1:n.*806C>T
ENST00000497830.5:c.*822C>T	ENSP00000420088.1:n.*822C>T
ENST00000497959.5:c.1111C>T	ENSP00000420648.1:p.Arg371Ter
ENST00000539926.5:c.775C>T	ENSP00000441253.2:p.Arg259Ter
ENST00000610757.4:c.775C>T	ENSP00000480435.1:p.Arg259Ter
ENST00000629669.2:c.1111C>T	ENSP00000486824.1:p.Arg371Ter
XM_006713702.1:c.898C>T	XP_006713765.1:p.Arg300Ter
XM_011512992.1:c.1111C>T	XP_011511294.1:p.Arg371Ter
XM_011512992.2:c.1111C>T	XP_011511294.1:p.Arg371Ter
XM_011512993.1:c.1225C>T	XP_011511295.1:p.Arg409Ter
XR_001740207.2:n.1348C>T
XR_001740208.2:n.1348C>T
XR_001740209.2:n.1318C>T
XR_001740210.1:n.1178C>T
XR_002959553.1:n.1348C>T
XR_002959554.1:n.1348C>T
XR_241502.2:n.1372C>T
XR_241502.3:n.1318C>T
XR_924159.1:n.1372C>T