Canonical Allele Identifier: CA355322850
Community Standard Title: NM_020166.5(MCCC1):c.90-1G>C
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183094606C>G , CM000665.2:g.183094606C>G GRCh38
NC_000003.11:g.182812394C>G , CM000665.1:g.182812394C>G GRCh37
NC_000003.10:g.184295088C>G NCBI36
NG_008100.1:g.9972G>C

Transcript Alleles

HGVS Amino-acid Change
NM_020166.5:c.90-1G>C MANE Select NP_064551.3:n.90-1G>C
ENST00000265594.9:c.90-1G>C MANE Select ENSP00000265594.4:n.90-1G>C
NM_001293273.1:c.-3-1G>C NP_001280202.1:n.-3-1G>C
NM_001293273.2:c.-3-1G>C NP_001280202.1:n.-3-1G>C
NM_001363880.1:c.-101-1G>C NP_001350809.1:n.-101-1G>C
NM_020166.4:c.90-1G>C NP_064551.3:n.90-1G>C
NR_120639.1:n.237-1G>C
NR_120639.2:n.146-1G>C
NR_120640.1:n.757-1G>C
NR_120640.2:n.757-1G>C
ENST00000265594.8:c.90-1G>C ENSP00000265594.4:n.90-1G>C
ENST00000466650.5:c.90-1G>C ENSP00000418979.1:n.90-1G>C
ENST00000473955.1:n.2G>C
ENST00000476176.5:c.90-1G>C ENSP00000420433.1:n.90-1G>C
ENST00000486226.1:c.90-1G>C ENSP00000420223.1:n.90-1G>C
ENST00000487634.5:c.90-1G>C ENSP00000420591.1:n.90-1G>C
ENST00000490284.5:c.89+4746G>C ENSP00000419328.1:n.89+4746G>C
ENST00000492597.5:c.-101-1G>C ENSP00000419898.1:n.-101-1G>C
ENST00000495767.5:c.90-1G>C ENSP00000419658.1:n.90-1G>C
ENST00000497830.5:c.90-1G>C ENSP00000420088.1:n.90-1G>C
ENST00000497959.5:c.-25-1G>C ENSP00000420648.1:n.-25-1G>C
ENST00000539926.5:c.-101-1G>C ENSP00000441253.2:n.-101-1G>C
ENST00000610757.4:c.-238-1G>C ENSP00000480435.1:n.-238-1G>C
ENST00000629669.2:c.-25-1G>C ENSP00000486824.1:n.-25-1G>C
XM_006713702.1:c.-101-1G>C XP_006713765.1:n.-101-1G>C
XM_011512992.1:c.-25-1G>C XP_011511294.1:n.-25-1G>C
XM_011512992.2:c.-25-1G>C XP_011511294.1:n.-25-1G>C
XM_011512993.1:c.90-1G>C XP_011511295.1:n.90-1G>C
XR_001740207.2:n.213-1G>C
XR_001740208.2:n.213-1G>C
XR_001740209.2:n.183-1G>C
XR_001740210.1:n.180-1G>C
XR_002959553.1:n.213-1G>C
XR_002959554.1:n.213-1G>C
XR_241502.2:n.237-1G>C
XR_241502.3:n.183-1G>C
XR_924159.1:n.237-1G>C