Canonical Allele Identifier: CA2718545

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183015445G>A , CM000665.2:g.183015445G>A	GRCh38
NC_000003.11:g.182733233G>A , CM000665.1:g.182733233G>A	GRCh37
NC_000003.10:g.184215927G>A	NCBI36
NG_008100.1:g.89133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2171C>T MANE Select	ENSP00000265594.4:p.Ser724Leu
ENST00000265594.8:c.2171C>T	ENSP00000265594.4:p.Ser724Leu
ENST00000464601.5:n.603C>T
ENST00000492597.5:c.1844C>T	ENSP00000419898.1:p.Ser615Leu
ENST00000497830.5:c.*1768C>T	ENSP00000420088.1:n.*1768C>T
ENST00000497959.5:c.*632C>T	ENSP00000420648.1:n.*632C>T
ENST00000539926.5:c.1721C>T	ENSP00000441253.2:p.Ser574Leu
ENST00000610757.4:c.1721C>T	ENSP00000480435.1:p.Ser574Leu
ENST00000629669.2:c.*535C>T	ENSP00000486824.1:n.*535C>T
NM_001293273.1:c.1820C>T	NP_001280202.1:p.Ser607Leu
NM_020166.4:c.2171C>T	NP_064551.3:p.Ser724Leu
NR_120639.1:n.2035C>T
NR_120640.1:n.2718C>T
XM_006713702.1:c.1844C>T	XP_006713765.1:p.Ser615Leu
XM_011512992.1:c.2057C>T	XP_011511294.1:p.Ser686Leu
XR_241502.2:n.2101C>T
NM_001363880.1:c.1844C>T	NP_001350809.1:p.Ser615Leu
XM_011512992.2:c.2057C>T	XP_011511294.1:p.Ser686Leu
XR_001740207.2:n.2391C>T
XR_001740208.2:n.2244C>T
XR_001740209.2:n.1997C>T
XR_001740210.1:n.2074C>T
XR_241502.3:n.2047C>T
NM_020166.5:c.2171C>T MANE Select	NP_064551.3:p.Ser724Leu
NM_001293273.2:c.1820C>T	NP_001280202.1:p.Ser607Leu
NR_120639.2:n.1944C>T
NR_120640.2:n.2718C>T