Canonical Allele Identifier: CA355330649

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183071319A>G , CM000665.2:g.183071319A>G	GRCh38
NC_000003.11:g.182789107A>G , CM000665.1:g.182789107A>G	GRCh37
NC_000003.10:g.184271801A>G	NCBI36
NG_008100.1:g.33259T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.530T>C MANE Select	NP_064551.3:p.Val177Ala
ENST00000265594.9:c.530T>C MANE Select	ENSP00000265594.4:p.Val177Ala
NM_001293273.1:c.179T>C	NP_001280202.1:p.Val60Ala
NM_001293273.2:c.179T>C	NP_001280202.1:p.Val60Ala
NM_001363880.1:c.203T>C	NP_001350809.1:p.Val68Ala
NM_020166.4:c.530T>C	NP_064551.3:p.Val177Ala
NR_120639.1:n.444T>C
NR_120639.2:n.353T>C
NR_120640.1:n.1197T>C
NR_120640.2:n.1197T>C
ENST00000265594.8:c.530T>C	ENSP00000265594.4:p.Val177Ala
ENST00000466650.5:c.*127T>C	ENSP00000418979.1:n.*127T>C
ENST00000476176.5:c.389T>C	ENSP00000420433.1:p.Val130Ala
ENST00000487634.5:c.*111T>C	ENSP00000420591.1:n.*111T>C
ENST00000490284.5:c.*79T>C	ENSP00000419328.1:n.*79T>C
ENST00000492597.5:c.203T>C	ENSP00000419898.1:p.Val68Ala
ENST00000495767.5:c.*111T>C	ENSP00000419658.1:n.*111T>C
ENST00000497830.5:c.*127T>C	ENSP00000420088.1:n.*127T>C
ENST00000497959.5:c.416T>C	ENSP00000420648.1:p.Val139Ala
ENST00000539926.5:c.80T>C	ENSP00000441253.2:p.Val27Ala
ENST00000610757.4:c.80T>C	ENSP00000480435.1:p.Val27Ala
ENST00000629669.2:c.416T>C	ENSP00000486824.1:p.Val139Ala
XM_006713702.1:c.203T>C	XP_006713765.1:p.Val68Ala
XM_011512992.1:c.416T>C	XP_011511294.1:p.Val139Ala
XM_011512992.2:c.416T>C	XP_011511294.1:p.Val139Ala
XM_011512993.1:c.530T>C	XP_011511295.1:p.Val177Ala
XR_001740207.2:n.653T>C
XR_001740208.2:n.653T>C
XR_001740209.2:n.623T>C
XR_001740210.1:n.483T>C
XR_002959553.1:n.653T>C
XR_002959554.1:n.653T>C
XR_241502.2:n.677T>C
XR_241502.3:n.623T>C
XR_924159.1:n.677T>C