Canonical Allele Identifier: CA2718544

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183015444C>T , CM000665.2:g.183015444C>T	GRCh38
NC_000003.11:g.182733232C>T , CM000665.1:g.182733232C>T	GRCh37
NC_000003.10:g.184215926C>T	NCBI36
NG_008100.1:g.89134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2172G>A MANE Select	ENSP00000265594.4:p.Ser724=
ENST00000265594.8:c.2172G>A	ENSP00000265594.4:p.Ser724=
ENST00000464601.5:n.604G>A
ENST00000492597.5:c.1845G>A	ENSP00000419898.1:p.Ser615=
ENST00000497830.5:c.*1769G>A	ENSP00000420088.1:n.*1769G>A
ENST00000497959.5:c.*633G>A	ENSP00000420648.1:n.*633G>A
ENST00000539926.5:c.1722G>A	ENSP00000441253.2:p.Ser574=
ENST00000610757.4:c.1722G>A	ENSP00000480435.1:p.Ser574=
ENST00000629669.2:c.*536G>A	ENSP00000486824.1:n.*536G>A
NM_001293273.1:c.1821G>A	NP_001280202.1:p.Ser607=
NM_020166.4:c.2172G>A	NP_064551.3:p.Ser724=
NR_120639.1:n.2036G>A
NR_120640.1:n.2719G>A
XM_006713702.1:c.1845G>A	XP_006713765.1:p.Ser615=
XM_011512992.1:c.2058G>A	XP_011511294.1:p.Ser686=
XR_241502.2:n.2102G>A
NM_001363880.1:c.1845G>A	NP_001350809.1:p.Ser615=
XM_011512992.2:c.2058G>A	XP_011511294.1:p.Ser686=
XR_001740207.2:n.2392G>A
XR_001740208.2:n.2245G>A
XR_001740209.2:n.1998G>A
XR_001740210.1:n.2075G>A
XR_241502.3:n.2048G>A
NM_020166.5:c.2172G>A MANE Select	NP_064551.3:p.Ser724=
NM_001293273.2:c.1821G>A	NP_001280202.1:p.Ser607=
NR_120639.2:n.1945G>A
NR_120640.2:n.2719G>A