Canonical Allele Identifier: CA355328990
Community Standard Title: NM_020166.5(MCCC1):c.761+1G>A
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183070998C>T , CM000665.2:g.183070998C>T GRCh38
NC_000003.11:g.182788786C>T , CM000665.1:g.182788786C>T GRCh37
NC_000003.10:g.184271480C>T NCBI36
NG_008100.1:g.33580G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020166.5:c.761+1G>A MANE Select NP_064551.3:n.761+1G>A
ENST00000265594.9:c.761+1G>A MANE Select ENSP00000265594.4:n.761+1G>A
NM_001293273.1:c.410+1G>A NP_001280202.1:n.410+1G>A
NM_001293273.2:c.410+1G>A NP_001280202.1:n.410+1G>A
NM_001363880.1:c.434+1G>A NP_001350809.1:n.434+1G>A
NM_020166.4:c.761+1G>A NP_064551.3:n.761+1G>A
NR_120639.1:n.675+1G>A
NR_120639.2:n.584+1G>A
NR_120640.1:n.1428+1G>A
NR_120640.2:n.1428+1G>A
ENST00000265594.8:c.761+1G>A ENSP00000265594.4:n.761+1G>A
ENST00000476176.5:c.620+1G>A ENSP00000420433.1:n.620+1G>A
ENST00000492597.5:c.434+1G>A ENSP00000419898.1:n.434+1G>A
ENST00000495767.5:c.*342+1G>A ENSP00000419658.1:n.*342+1G>A
ENST00000497830.5:c.*358+1G>A ENSP00000420088.1:n.*358+1G>A
ENST00000497959.5:c.647+1G>A ENSP00000420648.1:n.647+1G>A
ENST00000539926.5:c.311+1G>A ENSP00000441253.2:n.311+1G>A
ENST00000610757.4:c.311+1G>A ENSP00000480435.1:n.311+1G>A
ENST00000629669.2:c.647+1G>A ENSP00000486824.1:n.647+1G>A
XM_006713702.1:c.434+1G>A XP_006713765.1:n.434+1G>A
XM_011512992.1:c.647+1G>A XP_011511294.1:n.647+1G>A
XM_011512992.2:c.647+1G>A XP_011511294.1:n.647+1G>A
XM_011512993.1:c.761+1G>A XP_011511295.1:n.761+1G>A
XR_001740207.2:n.884+1G>A
XR_001740208.2:n.884+1G>A
XR_001740209.2:n.854+1G>A
XR_001740210.1:n.714+1G>A
XR_002959553.1:n.884+1G>A
XR_002959554.1:n.884+1G>A
XR_241502.2:n.908+1G>A
XR_241502.3:n.854+1G>A
XR_924159.1:n.908+1G>A