Canonical Allele Identifier: CA88707733
Community Standard Title: NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183086719G>A , CM000665.2:g.183086719G>A GRCh38
NC_000003.11:g.182804507G>A , CM000665.1:g.182804507G>A GRCh37
NC_000003.10:g.184287201G>A NCBI36
NG_008100.1:g.17859C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020166.5:c.343C>T MANE Select NP_064551.3:p.Gln115Ter
ENST00000265594.9:c.343C>T MANE Select ENSP00000265594.4:p.Gln115Ter
NM_001293273.1:c.114C>T NP_001280202.1:p.Phe38=
NM_001293273.2:c.114C>T NP_001280202.1:p.Phe38=
NM_001363880.1:c.16C>T NP_001350809.1:p.Gln6Ter
NM_020166.4:c.343C>T NP_064551.3:p.Gln115Ter
NR_120639.1:n.283+7840C>T
NR_120639.2:n.192+7840C>T
NR_120640.1:n.1010C>T
NR_120640.2:n.1010C>T
ENST00000265594.8:c.343C>T ENSP00000265594.4:p.Gln115Ter
ENST00000466650.5:c.*62C>T ENSP00000418979.1:n.*62C>T
ENST00000476176.5:c.202C>T ENSP00000420433.1:p.Gln68Ter
ENST00000486226.1:c.*100C>T ENSP00000420223.1:n.*100C>T
ENST00000487634.5:c.136+7840C>T ENSP00000420591.1:n.136+7840C>T
ENST00000490284.5:c.89+12633C>T ENSP00000419328.1:n.89+12633C>T
ENST00000492597.5:c.16C>T ENSP00000419898.1:p.Gln6Ter
ENST00000495767.5:c.136+7840C>T ENSP00000419658.1:n.136+7840C>T
ENST00000497830.5:c.*62C>T ENSP00000420088.1:n.*62C>T
ENST00000497959.5:c.229C>T ENSP00000420648.1:p.Gln77Ter
ENST00000539926.5:c.16C>T ENSP00000441253.2:p.Gln6Ter
ENST00000610757.4:c.16C>T ENSP00000480435.1:p.Gln6Ter
ENST00000629669.2:c.229C>T ENSP00000486824.1:p.Gln77Ter
XM_006713702.1:c.16C>T XP_006713765.1:p.Gln6Ter
XM_011512992.1:c.229C>T XP_011511294.1:p.Gln77Ter
XM_011512992.2:c.229C>T XP_011511294.1:p.Gln77Ter
XM_011512993.1:c.343C>T XP_011511295.1:p.Gln115Ter
XR_001740207.2:n.466C>T
XR_001740208.2:n.466C>T
XR_001740209.2:n.436C>T
XR_001740210.1:n.296C>T
XR_002959553.1:n.466C>T
XR_002959554.1:n.466C>T
XR_241502.2:n.490C>T
XR_241502.3:n.436C>T
XR_924159.1:n.490C>T