Canonical Allele Identifier: CA355321843

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756839A>C (hg19) ; chr3:g.183039051A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039051A>C , CM000665.2:g.183039051A>C	GRCh38
NC_000003.11:g.182756839A>C , CM000665.1:g.182756839A>C	GRCh37
NC_000003.10:g.184239533A>C	NCBI36
NG_008100.1:g.65527T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1352T>G MANE Select	ENSP00000265594.4:p.Leu451Arg
ENST00000265594.8:c.1352T>G	ENSP00000265594.4:p.Leu451Arg
ENST00000476176.5:c.1211T>G	ENSP00000420433.1:p.Leu404Arg
ENST00000492597.5:c.1025T>G	ENSP00000419898.1:p.Leu342Arg
ENST00000495767.5:c.*933T>G	ENSP00000419658.1:n.*933T>G
ENST00000497830.5:c.*949T>G	ENSP00000420088.1:n.*949T>G
ENST00000497959.5:c.1238T>G	ENSP00000420648.1:p.Leu413Arg
ENST00000539926.5:c.902T>G	ENSP00000441253.2:p.Leu301Arg
ENST00000610757.4:c.902T>G	ENSP00000480435.1:p.Leu301Arg
ENST00000629669.2:c.1238T>G	ENSP00000486824.1:p.Leu413Arg
NM_001293273.1:c.1001T>G	NP_001280202.1:p.Leu334Arg
NM_020166.4:c.1352T>G	NP_064551.3:p.Leu451Arg
NR_120639.1:n.1266T>G
NR_120640.1:n.2019T>G
XM_006713702.1:c.1025T>G	XP_006713765.1:p.Leu342Arg
XM_011512992.1:c.1238T>G	XP_011511294.1:p.Leu413Arg
XM_011512993.1:c.1352T>G	XP_011511295.1:p.Leu451Arg
XR_241502.2:n.1499T>G
XR_924159.1:n.1499T>G
NM_001363880.1:c.1025T>G	NP_001350809.1:p.Leu342Arg
XM_011512992.2:c.1238T>G	XP_011511294.1:p.Leu413Arg
XR_001740207.2:n.1475T>G
XR_001740208.2:n.1475T>G
XR_001740209.2:n.1445T>G
XR_001740210.1:n.1305T>G
XR_002959553.1:n.1475T>G
XR_002959554.1:n.1475T>G
XR_241502.3:n.1445T>G
NM_020166.5:c.1352T>G MANE Select	NP_064551.3:p.Leu451Arg
NM_001293273.2:c.1001T>G	NP_001280202.1:p.Leu334Arg
NR_120639.2:n.1175T>G
NR_120640.2:n.2019T>G