Canonical Allele Identifier: CA437092345

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755019A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037231A>G , CM000665.2:g.183037231A>G	GRCh38
NC_000003.11:g.182755019A>G , CM000665.1:g.182755019A>G	GRCh37
NC_000003.10:g.184237713A>G	NCBI36
NG_008100.1:g.67347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1581T>C MANE Select	ENSP00000265594.4:p.Thr527=
ENST00000265594.8:c.1581T>C	ENSP00000265594.4:p.Thr527=
ENST00000476176.5:c.1440T>C	ENSP00000420433.1:p.Thr480=
ENST00000489909.1:n.125T>C
ENST00000492597.5:c.1254T>C	ENSP00000419898.1:p.Thr418=
ENST00000495767.5:c.*1162T>C	ENSP00000419658.1:n.*1162T>C
ENST00000497830.5:c.*1178T>C	ENSP00000420088.1:n.*1178T>C
ENST00000497959.5:c.1263+1795T>C	ENSP00000420648.1:n.1263+1795T>C
ENST00000539926.5:c.1131T>C	ENSP00000441253.2:p.Thr377=
ENST00000610757.4:c.1131T>C	ENSP00000480435.1:p.Thr377=
ENST00000629669.2:c.1263+1795T>C	ENSP00000486824.1:n.1263+1795T>C
NM_001293273.1:c.1230T>C	NP_001280202.1:p.Thr410=
NM_020166.4:c.1581T>C	NP_064551.3:p.Thr527=
NR_120639.1:n.1495T>C
NR_120640.1:n.2044+1795T>C
XM_006713702.1:c.1254T>C	XP_006713765.1:p.Thr418=
XM_011512992.1:c.1467T>C	XP_011511294.1:p.Thr489=
XM_011512993.1:c.1377+1795T>C	XP_011511295.1:n.1377+1795T>C
XR_241502.2:n.1524+1795T>C
XR_924159.1:n.1728T>C
NM_001363880.1:c.1254T>C	NP_001350809.1:p.Thr418=
XM_011512992.2:c.1467T>C	XP_011511294.1:p.Thr489=
XR_001740207.2:n.1704T>C
XR_001740208.2:n.1704T>C
XR_001740209.2:n.1470+1795T>C
XR_001740210.1:n.1534T>C
XR_002959553.1:n.1704T>C
XR_002959554.1:n.1500+1795T>C
XR_241502.3:n.1470+1795T>C
NM_020166.5:c.1581T>C MANE Select	NP_064551.3:p.Thr527=
NM_001293273.2:c.1230T>C	NP_001280202.1:p.Thr410=
NR_120639.2:n.1404T>C
NR_120640.2:n.2044+1795T>C