Canonical Allele Identifier: CA1425382217

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037266T= , CM000665.2:g.183037266T=	GRCh38
NC_000003.11:g.182755054T= , CM000665.1:g.182755054T=	GRCh37
NC_000003.10:g.184237748T=	NCBI36
NG_008100.1:g.67312A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1546A= MANE Select	ENSP00000265594.4:p.Ile516=
ENST00000265594.8:c.1546A=	ENSP00000265594.4:p.Ile516=
ENST00000476176.5:c.1405A=	ENSP00000420433.1:p.Ile469=
ENST00000489909.1:n.90A=
ENST00000492597.5:c.1219A=	ENSP00000419898.1:p.Ile407=
ENST00000495767.5:c.*1127A=	ENSP00000419658.1:n.*1127A=
ENST00000497830.5:c.*1143A=	ENSP00000420088.1:n.*1143A=
ENST00000497959.5:c.1263+1760A=	ENSP00000420648.1:n.1263+1760A=
ENST00000539926.5:c.1096A=	ENSP00000441253.2:p.Ile366=
ENST00000610757.4:c.1096A=	ENSP00000480435.1:p.Ile366=
ENST00000629669.2:c.1263+1760A=	ENSP00000486824.1:n.1263+1760A=
NM_001293273.1:c.1195A=	NP_001280202.1:p.Ile399=
NM_020166.4:c.1546A=	NP_064551.3:p.Ile516=
NR_120639.1:n.1460A=
NR_120640.1:n.2044+1760A=
XM_006713702.1:c.1219A=	XP_006713765.1:p.Ile407=
XM_011512992.1:c.1432A=	XP_011511294.1:p.Ile478=
XM_011512993.1:c.1377+1760A=	XP_011511295.1:n.1377+1760A=
XR_241502.2:n.1524+1760A=
XR_924159.1:n.1693A=
NM_001363880.1:c.1219A=	NP_001350809.1:p.Ile407=
XM_011512992.2:c.1432A=	XP_011511294.1:p.Ile478=
XR_001740207.2:n.1669A=
XR_001740208.2:n.1669A=
XR_001740209.2:n.1470+1760A=
XR_001740210.1:n.1499A=
XR_002959553.1:n.1669A=
XR_002959554.1:n.1500+1760A=
XR_241502.3:n.1470+1760A=
NM_020166.5:c.1546A= MANE Select	NP_064551.3:p.Ile516=
NM_001293273.2:c.1195A=	NP_001280202.1:p.Ile399=
NR_120639.2:n.1369A=
NR_120640.2:n.2044+1760A=