Canonical Allele Identifier: CA10618146

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183057416T>C , CM000665.2:g.183057416T>C	GRCh38
NC_000003.11:g.182775204T>C , CM000665.1:g.182775204T>C	GRCh37
NC_000003.10:g.184257898T>C	NCBI36
NG_008100.1:g.47162A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.768A>G MANE Select	NP_064551.3:p.Val256=
ENST00000265594.9:c.768A>G MANE Select	ENSP00000265594.4:p.Val256=
NM_001293273.1:c.417A>G	NP_001280202.1:p.Val139=
NM_001293273.2:c.417A>G	NP_001280202.1:p.Val139=
NM_001363880.1:c.441A>G	NP_001350809.1:p.Val147=
NM_020166.4:c.768A>G	NP_064551.3:p.Val256=
NR_120639.1:n.682A>G
NR_120639.2:n.591A>G
NR_120640.1:n.1435A>G
NR_120640.2:n.1435A>G
ENST00000265594.8:c.768A>G	ENSP00000265594.4:p.Val256=
ENST00000476176.5:c.627A>G	ENSP00000420433.1:p.Val209=
ENST00000492597.5:c.441A>G	ENSP00000419898.1:p.Val147=
ENST00000495767.5:c.*349A>G	ENSP00000419658.1:n.*349A>G
ENST00000497830.5:c.*365A>G	ENSP00000420088.1:n.*365A>G
ENST00000497959.5:c.654A>G	ENSP00000420648.1:p.Val218=
ENST00000539926.5:c.318A>G	ENSP00000441253.2:p.Val106=
ENST00000610757.4:c.318A>G	ENSP00000480435.1:p.Val106=
ENST00000629669.2:c.654A>G	ENSP00000486824.1:p.Val218=
XM_006713702.1:c.441A>G	XP_006713765.1:p.Val147=
XM_011512992.1:c.654A>G	XP_011511294.1:p.Val218=
XM_011512992.2:c.654A>G	XP_011511294.1:p.Val218=
XM_011512993.1:c.768A>G	XP_011511295.1:p.Val256=
XR_001740207.2:n.891A>G
XR_001740208.2:n.891A>G
XR_001740209.2:n.861A>G
XR_001740210.1:n.721A>G
XR_002959553.1:n.891A>G
XR_002959554.1:n.891A>G
XR_241502.2:n.915A>G
XR_241502.3:n.861A>G
XR_924159.1:n.915A>G