Canonical Allele Identifier: CA355321731
Gene: MCCC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039025C>A , CM000665.2:g.183039025C>A GRCh38
NC_000003.11:g.182756813C>A , CM000665.1:g.182756813C>A GRCh37
NC_000003.10:g.184239507C>A NCBI36
NG_008100.1:g.65553G>T

Transcript Alleles

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