Canonical Allele Identifier: CA2718582

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183017306G>A , CM000665.2:g.183017306G>A	GRCh38
NC_000003.11:g.182735094G>A , CM000665.1:g.182735094G>A	GRCh37
NC_000003.10:g.184217788G>A	NCBI36
NG_008100.1:g.87272C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.2009C>T MANE Select	NP_064551.3:p.Ala670Val
ENST00000265594.9:c.2009C>T MANE Select	ENSP00000265594.4:p.Ala670Val
NM_001293273.1:c.1658C>T	NP_001280202.1:p.Ala553Val
NM_001293273.2:c.1658C>T	NP_001280202.1:p.Ala553Val
NM_001363880.1:c.1682C>T	NP_001350809.1:p.Ala561Val
NM_020166.4:c.2009C>T	NP_064551.3:p.Ala670Val
NR_120639.1:n.1873C>T
NR_120639.2:n.1782C>T
NR_120640.1:n.2556C>T
NR_120640.2:n.2556C>T
ENST00000265594.8:c.2009C>T	ENSP00000265594.4:p.Ala670Val
ENST00000464601.5:n.441C>T
ENST00000492597.5:c.1682C>T	ENSP00000419898.1:p.Ala561Val
ENST00000495767.5:c.*1540C>T	ENSP00000419658.1:n.*1540C>T
ENST00000497830.5:c.*1606C>T	ENSP00000420088.1:n.*1606C>T
ENST00000497959.5:c.*470C>T	ENSP00000420648.1:n.*470C>T
ENST00000539926.5:c.1559C>T	ENSP00000441253.2:p.Ala520Val
ENST00000610757.4:c.1559C>T	ENSP00000480435.1:p.Ala520Val
ENST00000629669.2:c.*373C>T	ENSP00000486824.1:n.*373C>T
XM_006713702.1:c.1682C>T	XP_006713765.1:p.Ala561Val
XM_011512992.1:c.1895C>T	XP_011511294.1:p.Ala632Val
XM_011512992.2:c.1895C>T	XP_011511294.1:p.Ala632Val
XR_001740207.2:n.2229C>T
XR_001740208.2:n.2082C>T
XR_001740209.2:n.1835C>T
XR_001740210.1:n.1912C>T
XR_241502.2:n.1939C>T
XR_241502.3:n.1885C>T