Canonical Allele Identifier: CA223558
Gene: MCCC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95939
ClinVar RCV Id: RCV000174390
dbSNP Id: rs398124351
MyVariant Identifiers: chr3:g.182756914A>G (hg19) chr3:g.183039126A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039126A>G , CM000665.2:g.183039126A>G GRCh38
NC_000003.11:g.182756914A>G , CM000665.1:g.182756914A>G GRCh37
NC_000003.10:g.184239608A>G NCBI36
NG_008100.1:g.65452T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265594.9:c.1277T>C MANE Select ENSP00000265594.4:p.Val426Ala
ENST00000265594.8:c.1277T>C ENSP00000265594.4:p.Val426Ala
ENST00000476176.5:c.1136T>C ENSP00000420433.1:p.Val379Ala
ENST00000492597.5:c.950T>C ENSP00000419898.1:p.Val317Ala
ENST00000495767.5:c.*858T>C ENSP00000419658.1:n.*858T>C
ENST00000497830.5:c.*874T>C ENSP00000420088.1:n.*874T>C
ENST00000497959.5:c.1163T>C ENSP00000420648.1:p.Val388Ala
ENST00000539926.5:c.827T>C ENSP00000441253.2:p.Val276Ala
ENST00000610757.4:c.827T>C ENSP00000480435.1:p.Val276Ala
ENST00000629669.2:c.1163T>C ENSP00000486824.1:p.Val388Ala
NM_001293273.1:c.926T>C NP_001280202.1:p.Val309Ala
NM_020166.4:c.1277T>C NP_064551.3:p.Val426Ala
NR_120639.1:n.1191T>C
NR_120640.1:n.1944T>C
XM_006713702.1:c.950T>C XP_006713765.1:p.Val317Ala
XM_011512992.1:c.1163T>C XP_011511294.1:p.Val388Ala
XM_011512993.1:c.1277T>C XP_011511295.1:p.Val426Ala
XR_241502.2:n.1424T>C
XR_924159.1:n.1424T>C
NM_001363880.1:c.950T>C NP_001350809.1:p.Val317Ala
XM_011512992.2:c.1163T>C XP_011511294.1:p.Val388Ala
XR_001740207.2:n.1400T>C
XR_001740208.2:n.1400T>C
XR_001740209.2:n.1370T>C
XR_001740210.1:n.1230T>C
XR_002959553.1:n.1400T>C
XR_002959554.1:n.1400T>C
XR_241502.3:n.1370T>C
NM_020166.5:c.1277T>C MANE Select NP_064551.3:p.Val426Ala
NM_001293273.2:c.926T>C NP_001280202.1:p.Val309Ala
NR_120639.2:n.1100T>C
NR_120640.2:n.1944T>C
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