Canonical Allele Identifier: CA437092382

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755049G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037261G>C , CM000665.2:g.183037261G>C	GRCh38
NC_000003.11:g.182755049G>C , CM000665.1:g.182755049G>C	GRCh37
NC_000003.10:g.184237743G>C	NCBI36
NG_008100.1:g.67317C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1551C>G MANE Select	ENSP00000265594.4:p.Leu517=
ENST00000265594.8:c.1551C>G	ENSP00000265594.4:p.Leu517=
ENST00000476176.5:c.1410C>G	ENSP00000420433.1:p.Leu470=
ENST00000489909.1:n.95C>G
ENST00000492597.5:c.1224C>G	ENSP00000419898.1:p.Leu408=
ENST00000495767.5:c.*1132C>G	ENSP00000419658.1:n.*1132C>G
ENST00000497830.5:c.*1148C>G	ENSP00000420088.1:n.*1148C>G
ENST00000497959.5:c.1263+1765C>G	ENSP00000420648.1:n.1263+1765C>G
ENST00000539926.5:c.1101C>G	ENSP00000441253.2:p.Leu367=
ENST00000610757.4:c.1101C>G	ENSP00000480435.1:p.Leu367=
ENST00000629669.2:c.1263+1765C>G	ENSP00000486824.1:n.1263+1765C>G
NM_001293273.1:c.1200C>G	NP_001280202.1:p.Leu400=
NM_020166.4:c.1551C>G	NP_064551.3:p.Leu517=
NR_120639.1:n.1465C>G
NR_120640.1:n.2044+1765C>G
XM_006713702.1:c.1224C>G	XP_006713765.1:p.Leu408=
XM_011512992.1:c.1437C>G	XP_011511294.1:p.Leu479=
XM_011512993.1:c.1377+1765C>G	XP_011511295.1:n.1377+1765C>G
XR_241502.2:n.1524+1765C>G
XR_924159.1:n.1698C>G
NM_001363880.1:c.1224C>G	NP_001350809.1:p.Leu408=
XM_011512992.2:c.1437C>G	XP_011511294.1:p.Leu479=
XR_001740207.2:n.1674C>G
XR_001740208.2:n.1674C>G
XR_001740209.2:n.1470+1765C>G
XR_001740210.1:n.1504C>G
XR_002959553.1:n.1674C>G
XR_002959554.1:n.1500+1765C>G
XR_241502.3:n.1470+1765C>G
NM_020166.5:c.1551C>G MANE Select	NP_064551.3:p.Leu517=
NM_001293273.2:c.1200C>G	NP_001280202.1:p.Leu400=
NR_120639.2:n.1374C>G
NR_120640.2:n.2044+1765C>G