Canonical Allele Identifier: CA355319235

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183086712G>T , CM000665.2:g.183086712G>T	GRCh38
NC_000003.11:g.182804500G>T , CM000665.1:g.182804500G>T	GRCh37
NC_000003.10:g.184287194G>T	NCBI36
NG_008100.1:g.17866C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.350C>A MANE Select	NP_064551.3:p.Ala117Asp
ENST00000265594.9:c.350C>A MANE Select	ENSP00000265594.4:p.Ala117Asp
NM_001293273.1:c.121C>A	NP_001280202.1:p.Pro41Thr
NM_001293273.2:c.121C>A	NP_001280202.1:p.Pro41Thr
NM_001363880.1:c.23C>A	NP_001350809.1:p.Ala8Asp
NM_020166.4:c.350C>A	NP_064551.3:p.Ala117Asp
NR_120639.1:n.283+7847C>A
NR_120639.2:n.192+7847C>A
NR_120640.1:n.1017C>A
NR_120640.2:n.1017C>A
ENST00000265594.8:c.350C>A	ENSP00000265594.4:p.Ala117Asp
ENST00000466650.5:c.*69C>A	ENSP00000418979.1:n.*69C>A
ENST00000476176.5:c.209C>A	ENSP00000420433.1:p.Ala70Asp
ENST00000486226.1:c.*107C>A	ENSP00000420223.1:n.*107C>A
ENST00000487634.5:c.136+7847C>A	ENSP00000420591.1:n.136+7847C>A
ENST00000490284.5:c.89+12640C>A	ENSP00000419328.1:n.89+12640C>A
ENST00000492597.5:c.23C>A	ENSP00000419898.1:p.Ala8Asp
ENST00000495767.5:c.136+7847C>A	ENSP00000419658.1:n.136+7847C>A
ENST00000497830.5:c.*69C>A	ENSP00000420088.1:n.*69C>A
ENST00000497959.5:c.236C>A	ENSP00000420648.1:p.Ala79Asp
ENST00000539926.5:c.23C>A	ENSP00000441253.2:p.Ala8Asp
ENST00000610757.4:c.23C>A	ENSP00000480435.1:p.Ala8Asp
ENST00000629669.2:c.236C>A	ENSP00000486824.1:p.Ala79Asp
XM_006713702.1:c.23C>A	XP_006713765.1:p.Ala8Asp
XM_011512992.1:c.236C>A	XP_011511294.1:p.Ala79Asp
XM_011512992.2:c.236C>A	XP_011511294.1:p.Ala79Asp
XM_011512993.1:c.350C>A	XP_011511295.1:p.Ala117Asp
XR_001740207.2:n.473C>A
XR_001740208.2:n.473C>A
XR_001740209.2:n.443C>A
XR_001740210.1:n.303C>A
XR_002959553.1:n.473C>A
XR_002959554.1:n.473C>A
XR_241502.2:n.497C>A
XR_241502.3:n.443C>A
XR_924159.1:n.497C>A