Canonical Allele Identifier: CA1425382940
Gene: MCCC1 HGNC NCBI

Linked Data

dbSNP Id: rs1713847552

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039019C>G , CM000665.2:g.183039019C>G GRCh38
NC_000003.11:g.182756807C>G , CM000665.1:g.182756807C>G GRCh37
NC_000003.10:g.184239501C>G NCBI36
NG_008100.1:g.65559G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265594.9:c.1377+7G>C MANE Select ENSP00000265594.4:n.1377+7G>C
ENST00000265594.8:c.1377+7G>C ENSP00000265594.4:n.1377+7G>C
ENST00000476176.5:c.1236+7G>C ENSP00000420433.1:n.1236+7G>C
ENST00000492597.5:c.1050+7G>C ENSP00000419898.1:n.1050+7G>C
ENST00000495767.5:c.*958+7G>C ENSP00000419658.1:n.*958+7G>C
ENST00000497830.5:c.*974+7G>C ENSP00000420088.1:n.*974+7G>C
ENST00000497959.5:c.1263+7G>C ENSP00000420648.1:n.1263+7G>C
ENST00000539926.5:c.927+7G>C ENSP00000441253.2:n.927+7G>C
ENST00000610757.4:c.927+7G>C ENSP00000480435.1:n.927+7G>C
ENST00000629669.2:c.1263+7G>C ENSP00000486824.1:n.1263+7G>C
NM_001293273.1:c.1026+7G>C NP_001280202.1:n.1026+7G>C
NM_020166.4:c.1377+7G>C NP_064551.3:n.1377+7G>C
NR_120639.1:n.1291+7G>C
NR_120640.1:n.2044+7G>C
XM_006713702.1:c.1050+7G>C XP_006713765.1:n.1050+7G>C
XM_011512992.1:c.1263+7G>C XP_011511294.1:n.1263+7G>C
XM_011512993.1:c.1377+7G>C XP_011511295.1:n.1377+7G>C
XR_241502.2:n.1524+7G>C
XR_924159.1:n.1524+7G>C
NM_001363880.1:c.1050+7G>C NP_001350809.1:n.1050+7G>C
XM_011512992.2:c.1263+7G>C XP_011511294.1:n.1263+7G>C
XR_001740207.2:n.1500+7G>C
XR_001740208.2:n.1500+7G>C
XR_001740209.2:n.1470+7G>C
XR_001740210.1:n.1330+7G>C
XR_002959553.1:n.1500+7G>C
XR_002959554.1:n.1500+7G>C
XR_241502.3:n.1470+7G>C
NM_020166.5:c.1377+7G>C MANE Select NP_064551.3:n.1377+7G>C
NM_001293273.2:c.1026+7G>C NP_001280202.1:n.1026+7G>C
NR_120639.2:n.1200+7G>C
NR_120640.2:n.2044+7G>C