Canonical Allele Identifier: CA2718863

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183041719T>G , CM000665.2:g.183041719T>G	GRCh38
NC_000003.11:g.182759507T>G , CM000665.1:g.182759507T>G	GRCh37
NC_000003.10:g.184242201T>G	NCBI36
NG_008100.1:g.62859A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1115A>C MANE Select	NP_064551.3:p.Gln372Pro
ENST00000265594.9:c.1115A>C MANE Select	ENSP00000265594.4:p.Gln372Pro
NM_001293273.1:c.764A>C	NP_001280202.1:p.Gln255Pro
NM_001293273.2:c.764A>C	NP_001280202.1:p.Gln255Pro
NM_001363880.1:c.788A>C	NP_001350809.1:p.Gln263Pro
NM_020166.4:c.1115A>C	NP_064551.3:p.Gln372Pro
NR_120639.1:n.1029A>C
NR_120639.2:n.938A>C
NR_120640.1:n.1782A>C
NR_120640.2:n.1782A>C
ENST00000265594.8:c.1115A>C	ENSP00000265594.4:p.Gln372Pro
ENST00000476176.5:c.974A>C	ENSP00000420433.1:p.Gln325Pro
ENST00000492597.5:c.788A>C	ENSP00000419898.1:p.Gln263Pro
ENST00000495767.5:c.*696A>C	ENSP00000419658.1:n.*696A>C
ENST00000497830.5:c.*712A>C	ENSP00000420088.1:n.*712A>C
ENST00000497959.5:c.1001A>C	ENSP00000420648.1:p.Gln334Pro
ENST00000539926.5:c.665A>C	ENSP00000441253.2:p.Gln222Pro
ENST00000610757.4:c.665A>C	ENSP00000480435.1:p.Gln222Pro
ENST00000629669.2:c.1001A>C	ENSP00000486824.1:p.Gln334Pro
XM_006713702.1:c.788A>C	XP_006713765.1:p.Gln263Pro
XM_011512992.1:c.1001A>C	XP_011511294.1:p.Gln334Pro
XM_011512992.2:c.1001A>C	XP_011511294.1:p.Gln334Pro
XM_011512993.1:c.1115A>C	XP_011511295.1:p.Gln372Pro
XR_001740207.2:n.1238A>C
XR_001740208.2:n.1238A>C
XR_001740209.2:n.1208A>C
XR_001740210.1:n.1068A>C
XR_002959553.1:n.1238A>C
XR_002959554.1:n.1238A>C
XR_241502.2:n.1262A>C
XR_241502.3:n.1208A>C
XR_924159.1:n.1262A>C