Canonical Allele Identifier: CA437089854

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183022486A>G , CM000665.2:g.183022486A>G	GRCh38
NC_000003.11:g.182740274A>G , CM000665.1:g.182740274A>G	GRCh37
NC_000003.10:g.184222968A>G	NCBI36
NG_008100.1:g.82092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1800T>C MANE Select	ENSP00000265594.4:p.Cys600=
ENST00000265594.8:c.1800T>C	ENSP00000265594.4:p.Cys600=
ENST00000464601.5:n.232T>C
ENST00000476176.5:c.1659T>C	ENSP00000420433.1:p.Cys553=
ENST00000489909.1:n.441T>C
ENST00000492597.5:c.1473T>C	ENSP00000419898.1:p.Cys491=
ENST00000495767.5:c.*1331T>C	ENSP00000419658.1:n.*1331T>C
ENST00000497830.5:c.*1397T>C	ENSP00000420088.1:n.*1397T>C
ENST00000497959.5:c.*261T>C	ENSP00000420648.1:n.*261T>C
ENST00000539926.5:c.1350T>C	ENSP00000441253.2:p.Cys450=
ENST00000610757.4:c.1350T>C	ENSP00000480435.1:p.Cys450=
ENST00000629669.2:c.*164T>C	ENSP00000486824.1:n.*164T>C
NM_001293273.1:c.1449T>C	NP_001280202.1:p.Cys483=
NM_020166.4:c.1800T>C	NP_064551.3:p.Cys600=
NR_120639.1:n.1664T>C
NR_120640.1:n.2347T>C
XM_006713702.1:c.1473T>C	XP_006713765.1:p.Cys491=
XM_011512992.1:c.1686T>C	XP_011511294.1:p.Cys562=
XR_241502.2:n.1730T>C
XR_924159.1:n.2044T>C
NM_001363880.1:c.1473T>C	NP_001350809.1:p.Cys491=
XM_011512992.2:c.1686T>C	XP_011511294.1:p.Cys562=
XR_001740207.2:n.2020T>C
XR_001740208.2:n.1873T>C
XR_001740209.2:n.1626T>C
XR_001740210.1:n.1703T>C
XR_241502.3:n.1676T>C
NM_020166.5:c.1800T>C MANE Select	NP_064551.3:p.Cys600=
NM_001293273.2:c.1449T>C	NP_001280202.1:p.Cys483=
NR_120639.2:n.1573T>C
NR_120640.2:n.2347T>C