Canonical Allele Identifier: CA437092793

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756862A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039074A>G , CM000665.2:g.183039074A>G	GRCh38
NC_000003.11:g.182756862A>G , CM000665.1:g.182756862A>G	GRCh37
NC_000003.10:g.184239556A>G	NCBI36
NG_008100.1:g.65504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1329T>C MANE Select	ENSP00000265594.4:p.Asp443=
ENST00000265594.8:c.1329T>C	ENSP00000265594.4:p.Asp443=
ENST00000476176.5:c.1188T>C	ENSP00000420433.1:p.Asp396=
ENST00000492597.5:c.1002T>C	ENSP00000419898.1:p.Asp334=
ENST00000495767.5:c.*910T>C	ENSP00000419658.1:n.*910T>C
ENST00000497830.5:c.*926T>C	ENSP00000420088.1:n.*926T>C
ENST00000497959.5:c.1215T>C	ENSP00000420648.1:p.Asp405=
ENST00000539926.5:c.879T>C	ENSP00000441253.2:p.Asp293=
ENST00000610757.4:c.879T>C	ENSP00000480435.1:p.Asp293=
ENST00000629669.2:c.1215T>C	ENSP00000486824.1:p.Asp405=
NM_001293273.1:c.978T>C	NP_001280202.1:p.Asp326=
NM_020166.4:c.1329T>C	NP_064551.3:p.Asp443=
NR_120639.1:n.1243T>C
NR_120640.1:n.1996T>C
XM_006713702.1:c.1002T>C	XP_006713765.1:p.Asp334=
XM_011512992.1:c.1215T>C	XP_011511294.1:p.Asp405=
XM_011512993.1:c.1329T>C	XP_011511295.1:p.Asp443=
XR_241502.2:n.1476T>C
XR_924159.1:n.1476T>C
NM_001363880.1:c.1002T>C	NP_001350809.1:p.Asp334=
XM_011512992.2:c.1215T>C	XP_011511294.1:p.Asp405=
XR_001740207.2:n.1452T>C
XR_001740208.2:n.1452T>C
XR_001740209.2:n.1422T>C
XR_001740210.1:n.1282T>C
XR_002959553.1:n.1452T>C
XR_002959554.1:n.1452T>C
XR_241502.3:n.1422T>C
NM_020166.5:c.1329T>C MANE Select	NP_064551.3:p.Asp443=
NM_001293273.2:c.978T>C	NP_001280202.1:p.Asp326=
NR_120639.2:n.1152T>C
NR_120640.2:n.1996T>C