Canonical Allele Identifier: CA2718999

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183071087G>A , CM000665.2:g.183071087G>A	GRCh38
NC_000003.11:g.182788875G>A , CM000665.1:g.182788875G>A	GRCh37
NC_000003.10:g.184271569G>A	NCBI36
NG_008100.1:g.33491C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.673C>T MANE Select	NP_064551.3:p.Gln225Ter
ENST00000265594.9:c.673C>T MANE Select	ENSP00000265594.4:p.Gln225Ter
NM_001293273.1:c.322C>T	NP_001280202.1:p.Gln108Ter
NM_001293273.2:c.322C>T	NP_001280202.1:p.Gln108Ter
NM_001363880.1:c.346C>T	NP_001350809.1:p.Gln116Ter
NM_020166.4:c.673C>T	NP_064551.3:p.Gln225Ter
NR_120639.1:n.587C>T
NR_120639.2:n.496C>T
NR_120640.1:n.1340C>T
NR_120640.2:n.1340C>T
ENST00000265594.8:c.673C>T	ENSP00000265594.4:p.Gln225Ter
ENST00000466650.5:c.*294C>T	ENSP00000418979.1:n.*294C>T
ENST00000476176.5:c.532C>T	ENSP00000420433.1:p.Gln178Ter
ENST00000487634.5:c.*254C>T	ENSP00000420591.1:n.*254C>T
ENST00000490284.5:c.*222C>T	ENSP00000419328.1:n.*222C>T
ENST00000492597.5:c.346C>T	ENSP00000419898.1:p.Gln116Ter
ENST00000495767.5:c.*254C>T	ENSP00000419658.1:n.*254C>T
ENST00000497830.5:c.*270C>T	ENSP00000420088.1:n.*270C>T
ENST00000497959.5:c.559C>T	ENSP00000420648.1:p.Gln187Ter
ENST00000539926.5:c.223C>T	ENSP00000441253.2:p.Gln75Ter
ENST00000610757.4:c.223C>T	ENSP00000480435.1:p.Gln75Ter
ENST00000629669.2:c.559C>T	ENSP00000486824.1:p.Gln187Ter
XM_006713702.1:c.346C>T	XP_006713765.1:p.Gln116Ter
XM_011512992.1:c.559C>T	XP_011511294.1:p.Gln187Ter
XM_011512992.2:c.559C>T	XP_011511294.1:p.Gln187Ter
XM_011512993.1:c.673C>T	XP_011511295.1:p.Gln225Ter
XR_001740207.2:n.796C>T
XR_001740208.2:n.796C>T
XR_001740209.2:n.766C>T
XR_001740210.1:n.626C>T
XR_002959553.1:n.796C>T
XR_002959554.1:n.796C>T
XR_241502.2:n.820C>T
XR_241502.3:n.766C>T
XR_924159.1:n.820C>T