Canonical Allele Identifier: CA355315513
Community Standard Title: NM_020166.5(MCCC1):c.1870-2A>G
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183020239T>C , CM000665.2:g.183020239T>C GRCh38
NC_000003.11:g.182738027T>C , CM000665.1:g.182738027T>C GRCh37
NC_000003.10:g.184220721T>C NCBI36
NG_008100.1:g.84339A>G

Transcript Alleles

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