Canonical Allele Identifier: CA437084184

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183015522G>A , CM000665.2:g.183015522G>A	GRCh38
NC_000003.11:g.182733310G>A , CM000665.1:g.182733310G>A	GRCh37
NC_000003.10:g.184216004G>A	NCBI36
NG_008100.1:g.89056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2094C>T MANE Select	ENSP00000265594.4:p.Phe698=
ENST00000265594.8:c.2094C>T	ENSP00000265594.4:p.Phe698=
ENST00000464601.5:n.526C>T
ENST00000492597.5:c.1767C>T	ENSP00000419898.1:p.Phe589=
ENST00000497830.5:c.*1691C>T	ENSP00000420088.1:n.*1691C>T
ENST00000497959.5:c.*555C>T	ENSP00000420648.1:n.*555C>T
ENST00000539926.5:c.1644C>T	ENSP00000441253.2:p.Phe548=
ENST00000610757.4:c.1644C>T	ENSP00000480435.1:p.Phe548=
ENST00000629669.2:c.*458C>T	ENSP00000486824.1:n.*458C>T
NM_001293273.1:c.1743C>T	NP_001280202.1:p.Phe581=
NM_020166.4:c.2094C>T	NP_064551.3:p.Phe698=
NR_120639.1:n.1958C>T
NR_120640.1:n.2641C>T
XM_006713702.1:c.1767C>T	XP_006713765.1:p.Phe589=
XM_011512992.1:c.1980C>T	XP_011511294.1:p.Phe660=
XR_241502.2:n.2024C>T
NM_001363880.1:c.1767C>T	NP_001350809.1:p.Phe589=
XM_011512992.2:c.1980C>T	XP_011511294.1:p.Phe660=
XR_001740207.2:n.2314C>T
XR_001740208.2:n.2167C>T
XR_001740209.2:n.1920C>T
XR_001740210.1:n.1997C>T
XR_241502.3:n.1970C>T
NM_020166.5:c.2094C>T MANE Select	NP_064551.3:p.Phe698=
NM_001293273.2:c.1743C>T	NP_001280202.1:p.Phe581=
NR_120639.2:n.1867C>T
NR_120640.2:n.2641C>T