Canonical Allele Identifier: CA1425382211

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037251C= , CM000665.2:g.183037251C=	GRCh38
NC_000003.11:g.182755039C= , CM000665.1:g.182755039C=	GRCh37
NC_000003.10:g.184237733C=	NCBI36
NG_008100.1:g.67327G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1561G= MANE Select	ENSP00000265594.4:p.Ala521=
ENST00000265594.8:c.1561G=	ENSP00000265594.4:p.Ala521=
ENST00000476176.5:c.1420G=	ENSP00000420433.1:p.Ala474=
ENST00000489909.1:n.105G=
ENST00000492597.5:c.1234G=	ENSP00000419898.1:p.Ala412=
ENST00000495767.5:c.*1142G=	ENSP00000419658.1:n.*1142G=
ENST00000497830.5:c.*1158G=	ENSP00000420088.1:n.*1158G=
ENST00000497959.5:c.1263+1775G=	ENSP00000420648.1:n.1263+1775G=
ENST00000539926.5:c.1111G=	ENSP00000441253.2:p.Ala371=
ENST00000610757.4:c.1111G=	ENSP00000480435.1:p.Ala371=
ENST00000629669.2:c.1263+1775G=	ENSP00000486824.1:n.1263+1775G=
NM_001293273.1:c.1210G=	NP_001280202.1:p.Ala404=
NM_020166.4:c.1561G=	NP_064551.3:p.Ala521=
NR_120639.1:n.1475G=
NR_120640.1:n.2044+1775G=
XM_006713702.1:c.1234G=	XP_006713765.1:p.Ala412=
XM_011512992.1:c.1447G=	XP_011511294.1:p.Ala483=
XM_011512993.1:c.1377+1775G=	XP_011511295.1:n.1377+1775G=
XR_241502.2:n.1524+1775G=
XR_924159.1:n.1708G=
NM_001363880.1:c.1234G=	NP_001350809.1:p.Ala412=
XM_011512992.2:c.1447G=	XP_011511294.1:p.Ala483=
XR_001740207.2:n.1684G=
XR_001740208.2:n.1684G=
XR_001740209.2:n.1470+1775G=
XR_001740210.1:n.1514G=
XR_002959553.1:n.1684G=
XR_002959554.1:n.1500+1775G=
XR_241502.3:n.1470+1775G=
NM_020166.5:c.1561G= MANE Select	NP_064551.3:p.Ala521=
NM_001293273.2:c.1210G=	NP_001280202.1:p.Ala404=
NR_120639.2:n.1384G=
NR_120640.2:n.2044+1775G=