Canonical Allele Identifier: CA437092750

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 2801890
• ClinVar RCV Id: RCV003601383
• MyVariant Identifiers: chr3:g.182756823A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039035A>C , CM000665.2:g.183039035A>C	GRCh38
NC_000003.11:g.182756823A>C , CM000665.1:g.182756823A>C	GRCh37
NC_000003.10:g.184239517A>C	NCBI36
NG_008100.1:g.65543T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1368T>G MANE Select	ENSP00000265594.4:p.Arg456=
ENST00000265594.8:c.1368T>G	ENSP00000265594.4:p.Arg456=
ENST00000476176.5:c.1227T>G	ENSP00000420433.1:p.Arg409=
ENST00000492597.5:c.1041T>G	ENSP00000419898.1:p.Arg347=
ENST00000495767.5:c.*949T>G	ENSP00000419658.1:n.*949T>G
ENST00000497830.5:c.*965T>G	ENSP00000420088.1:n.*965T>G
ENST00000497959.5:c.1254T>G	ENSP00000420648.1:p.Arg418=
ENST00000539926.5:c.918T>G	ENSP00000441253.2:p.Arg306=
ENST00000610757.4:c.918T>G	ENSP00000480435.1:p.Arg306=
ENST00000629669.2:c.1254T>G	ENSP00000486824.1:p.Arg418=
NM_001293273.1:c.1017T>G	NP_001280202.1:p.Arg339=
NM_020166.4:c.1368T>G	NP_064551.3:p.Arg456=
NR_120639.1:n.1282T>G
NR_120640.1:n.2035T>G
XM_006713702.1:c.1041T>G	XP_006713765.1:p.Arg347=
XM_011512992.1:c.1254T>G	XP_011511294.1:p.Arg418=
XM_011512993.1:c.1368T>G	XP_011511295.1:p.Arg456=
XR_241502.2:n.1515T>G
XR_924159.1:n.1515T>G
NM_001363880.1:c.1041T>G	NP_001350809.1:p.Arg347=
XM_011512992.2:c.1254T>G	XP_011511294.1:p.Arg418=
XR_001740207.2:n.1491T>G
XR_001740208.2:n.1491T>G
XR_001740209.2:n.1461T>G
XR_001740210.1:n.1321T>G
XR_002959553.1:n.1491T>G
XR_002959554.1:n.1491T>G
XR_241502.3:n.1461T>G
NM_020166.5:c.1368T>G MANE Select	NP_064551.3:p.Arg456=
NM_001293273.2:c.1017T>G	NP_001280202.1:p.Arg339=
NR_120639.2:n.1191T>G
NR_120640.2:n.2035T>G