Canonical Allele Identifier: CA149061
Gene: MCCC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95941
dbSNP Id: rs2270968

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183037421T>G , CM000665.2:g.183037421T>G GRCh38
NC_000003.11:g.182755209T>G , CM000665.1:g.182755209T>G GRCh37
NC_000003.10:g.184237903T>G NCBI36
NG_008100.1:g.67157A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1391A>C MANE Select ENSP00000265594.4:p.His464Pro
ENST00000265594.8:c.1391A>C ENSP00000265594.4:p.His464Pro
ENST00000476176.5:c.1250A>C ENSP00000420433.1:p.His417Pro
ENST00000492597.5:c.1064A>C ENSP00000419898.1:p.His355Pro
ENST00000495767.5:c.*972A>C ENSP00000419658.1:n.*972A>C
ENST00000497830.5:c.*988A>C ENSP00000420088.1:n.*988A>C
ENST00000497959.5:c.1263+1605A>C ENSP00000420648.1:n.1263+1605A>C
ENST00000539926.5:c.941A>C ENSP00000441253.2:p.His314Pro
ENST00000610757.4:c.941A>C ENSP00000480435.1:p.His314Pro
ENST00000629669.2:c.1263+1605A>C ENSP00000486824.1:n.1263+1605A>C
NM_001293273.1:c.1040A>C NP_001280202.1:p.His347Pro
NM_020166.4:c.1391A>C NP_064551.3:p.His464Pro
NR_120639.1:n.1305A>C
NR_120640.1:n.2044+1605A>C
XM_006713702.1:c.1064A>C XP_006713765.1:p.His355Pro
XM_011512992.1:c.1277A>C XP_011511294.1:p.His426Pro
XM_011512993.1:c.1377+1605A>C XP_011511295.1:n.1377+1605A>C
XR_241502.2:n.1524+1605A>C
XR_924159.1:n.1538A>C
NM_001363880.1:c.1064A>C NP_001350809.1:p.His355Pro
XM_011512992.2:c.1277A>C XP_011511294.1:p.His426Pro
XR_001740207.2:n.1514A>C
XR_001740208.2:n.1514A>C
XR_001740209.2:n.1470+1605A>C
XR_001740210.1:n.1344A>C
XR_002959553.1:n.1514A>C
XR_002959554.1:n.1500+1605A>C
XR_241502.3:n.1470+1605A>C
NM_020166.5:c.1391A>C MANE Select NP_064551.3:p.His464Pro
NM_001293273.2:c.1040A>C NP_001280202.1:p.His347Pro
NR_120639.2:n.1214A>C
NR_120640.2:n.2044+1605A>C