Canonical Allele Identifier: CA2718684

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183025764A>G , CM000665.2:g.183025764A>G	GRCh38
NC_000003.11:g.182743552A>G , CM000665.1:g.182743552A>G	GRCh37
NC_000003.10:g.184226246A>G	NCBI36
NG_008100.1:g.78814T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1722T>C MANE Select	NP_064551.3:p.Tyr574=
ENST00000265594.9:c.1722T>C MANE Select	ENSP00000265594.4:p.Tyr574=
NM_001293273.1:c.1371T>C	NP_001280202.1:p.Tyr457=
NM_001293273.2:c.1371T>C	NP_001280202.1:p.Tyr457=
NM_001363880.1:c.1395T>C	NP_001350809.1:p.Tyr465=
NM_020166.4:c.1722T>C	NP_064551.3:p.Tyr574=
NR_120639.1:n.1596-3210T>C
NR_120639.2:n.1505-3210T>C
NR_120640.1:n.2269T>C
NR_120640.2:n.2269T>C
ENST00000265594.8:c.1722T>C	ENSP00000265594.4:p.Tyr574=
ENST00000476176.5:c.1581T>C	ENSP00000420433.1:p.Tyr527=
ENST00000489909.1:n.363T>C
ENST00000492597.5:c.1395T>C	ENSP00000419898.1:p.Tyr465=
ENST00000495767.5:c.*1263-3210T>C	ENSP00000419658.1:n.*1263-3210T>C
ENST00000497830.5:c.*1319T>C	ENSP00000420088.1:n.*1319T>C
ENST00000497959.5:c.*183T>C	ENSP00000420648.1:n.*183T>C
ENST00000539926.5:c.1272T>C	ENSP00000441253.2:p.Tyr424=
ENST00000610757.4:c.1272T>C	ENSP00000480435.1:p.Tyr424=
ENST00000629669.2:c.*86T>C	ENSP00000486824.1:n.*86T>C
XM_006713702.1:c.1395T>C	XP_006713765.1:p.Tyr465=
XM_011512992.1:c.1608T>C	XP_011511294.1:p.Tyr536=
XM_011512992.2:c.1608T>C	XP_011511294.1:p.Tyr536=
XR_001740207.2:n.1942T>C
XR_001740208.2:n.1805-3210T>C
XR_001740209.2:n.1558-3210T>C
XR_001740210.1:n.1635-3210T>C
XR_002959554.1:n.1725T>C
XR_241502.2:n.1652T>C
XR_241502.3:n.1598T>C
XR_924159.1:n.1966T>C