Canonical Allele Identifier: CA2499216603
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183020371A>G , CM000665.2:g.183020371A>G GRCh38
NC_000003.11:g.182738159A>G , CM000665.1:g.182738159A>G GRCh37
NC_000003.10:g.184220853A>G NCBI36
NG_008100.1:g.84207T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1870-134T>C MANE Select ENSP00000265594.4:n.1870-134T>C
ENST00000265594.8:c.1870-134T>C ENSP00000265594.4:n.1870-134T>C
ENST00000464601.5:n.302-134T>C
ENST00000476176.5:c.1729-134T>C ENSP00000420433.1:n.1729-134T>C
ENST00000492597.5:c.1543-134T>C ENSP00000419898.1:n.1543-134T>C
ENST00000495767.5:c.*1401-134T>C ENSP00000419658.1:n.*1401-134T>C
ENST00000497830.5:c.*1467-134T>C ENSP00000420088.1:n.*1467-134T>C
ENST00000497959.5:c.*331-134T>C ENSP00000420648.1:n.*331-134T>C
ENST00000539926.5:c.1420-134T>C ENSP00000441253.2:n.1420-134T>C
ENST00000610757.4:c.1420-134T>C ENSP00000480435.1:n.1420-134T>C
ENST00000629669.2:c.*234-134T>C ENSP00000486824.1:n.*234-134T>C
NM_001293273.1:c.1519-134T>C NP_001280202.1:n.1519-134T>C
NM_020166.4:c.1870-134T>C NP_064551.3:n.1870-134T>C
NR_120639.1:n.1734-134T>C
NR_120640.1:n.2417-134T>C
XM_006713702.1:c.1543-134T>C XP_006713765.1:n.1543-134T>C
XM_011512992.1:c.1756-134T>C XP_011511294.1:n.1756-134T>C
XR_241502.2:n.1800-134T>C
NM_001363880.1:c.1543-134T>C NP_001350809.1:n.1543-134T>C
XM_011512992.2:c.1756-134T>C XP_011511294.1:n.1756-134T>C
XR_001740207.2:n.2090-134T>C
XR_001740208.2:n.1943-134T>C
XR_001740209.2:n.1696-134T>C
XR_001740210.1:n.1773-134T>C
XR_241502.3:n.1746-134T>C
NM_020166.5:c.1870-134T>C MANE Select NP_064551.3:n.1870-134T>C
NM_001293273.2:c.1519-134T>C NP_001280202.1:n.1519-134T>C
NR_120639.2:n.1643-134T>C
NR_120640.2:n.2417-134T>C