Canonical Allele Identifier: CA355327587

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183057318G>A , CM000665.2:g.183057318G>A	GRCh38
NC_000003.11:g.182775106G>A , CM000665.1:g.182775106G>A	GRCh37
NC_000003.10:g.184257800G>A	NCBI36
NG_008100.1:g.47260C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.866C>T MANE Select	NP_064551.3:p.Ala289Val
ENST00000265594.9:c.866C>T MANE Select	ENSP00000265594.4:p.Ala289Val
NM_001293273.1:c.515C>T	NP_001280202.1:p.Ala172Val
NM_001293273.2:c.515C>T	NP_001280202.1:p.Ala172Val
NM_001363880.1:c.539C>T	NP_001350809.1:p.Ala180Val
NM_020166.4:c.866C>T	NP_064551.3:p.Ala289Val
NR_120639.1:n.780C>T
NR_120639.2:n.689C>T
NR_120640.1:n.1533C>T
NR_120640.2:n.1533C>T
ENST00000265594.8:c.866C>T	ENSP00000265594.4:p.Ala289Val
ENST00000476176.5:c.725C>T	ENSP00000420433.1:p.Ala242Val
ENST00000492597.5:c.539C>T	ENSP00000419898.1:p.Ala180Val
ENST00000495767.5:c.*447C>T	ENSP00000419658.1:n.*447C>T
ENST00000497830.5:c.*463C>T	ENSP00000420088.1:n.*463C>T
ENST00000497959.5:c.752C>T	ENSP00000420648.1:p.Ala251Val
ENST00000539926.5:c.416C>T	ENSP00000441253.2:p.Ala139Val
ENST00000610757.4:c.416C>T	ENSP00000480435.1:p.Ala139Val
ENST00000629669.2:c.752C>T	ENSP00000486824.1:p.Ala251Val
XM_006713702.1:c.539C>T	XP_006713765.1:p.Ala180Val
XM_011512992.1:c.752C>T	XP_011511294.1:p.Ala251Val
XM_011512992.2:c.752C>T	XP_011511294.1:p.Ala251Val
XM_011512993.1:c.866C>T	XP_011511295.1:p.Ala289Val
XR_001740207.2:n.989C>T
XR_001740208.2:n.989C>T
XR_001740209.2:n.959C>T
XR_001740210.1:n.819C>T
XR_002959553.1:n.989C>T
XR_002959554.1:n.989C>T
XR_241502.2:n.1013C>T
XR_241502.3:n.959C>T
XR_924159.1:n.1013C>T