Canonical Allele Identifier: CA234237
Gene: MCCC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1930
dbSNP Id: rs119103213

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183041679T>G , CM000665.2:g.183041679T>G GRCh38
NC_000003.11:g.182759467T>G , CM000665.1:g.182759467T>G GRCh37
NC_000003.10:g.184242161T>G NCBI36
NG_008100.1:g.62899A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265594.9:c.1155A>C MANE Select ENSP00000265594.4:p.Arg385Ser
ENST00000265594.8:c.1155A>C ENSP00000265594.4:p.Arg385Ser
ENST00000476176.5:c.1014A>C ENSP00000420433.1:p.Arg338Ser
ENST00000492597.5:c.828A>C ENSP00000419898.1:p.Arg276Ser
ENST00000495767.5:c.*736A>C ENSP00000419658.1:n.*736A>C
ENST00000497830.5:c.*752A>C ENSP00000420088.1:n.*752A>C
ENST00000497959.5:c.1041A>C ENSP00000420648.1:p.Arg347Ser
ENST00000539926.5:c.705A>C ENSP00000441253.2:p.Arg235Ser
ENST00000610757.4:c.705A>C ENSP00000480435.1:p.Arg235Ser
ENST00000629669.2:c.1041A>C ENSP00000486824.1:p.Arg347Ser
NM_001293273.1:c.804A>C NP_001280202.1:p.Arg268Ser
NM_020166.4:c.1155A>C NP_064551.3:p.Arg385Ser
NR_120639.1:n.1069A>C
NR_120640.1:n.1822A>C
XM_006713702.1:c.828A>C XP_006713765.1:p.Arg276Ser
XM_011512992.1:c.1041A>C XP_011511294.1:p.Arg347Ser
XM_011512993.1:c.1155A>C XP_011511295.1:p.Arg385Ser
XR_241502.2:n.1302A>C
XR_924159.1:n.1302A>C
NM_001363880.1:c.828A>C NP_001350809.1:p.Arg276Ser
XM_011512992.2:c.1041A>C XP_011511294.1:p.Arg347Ser
XR_001740207.2:n.1278A>C
XR_001740208.2:n.1278A>C
XR_001740209.2:n.1248A>C
XR_001740210.1:n.1108A>C
XR_002959553.1:n.1278A>C
XR_002959554.1:n.1278A>C
XR_241502.3:n.1248A>C
NM_020166.5:c.1155A>C MANE Select NP_064551.3:p.Arg385Ser
NM_001293273.2:c.804A>C NP_001280202.1:p.Arg268Ser
NR_120639.2:n.978A>C
NR_120640.2:n.1822A>C