Canonical Allele Identifier: CA2718906

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183045516G>C , CM000665.2:g.183045516G>C	GRCh38
NC_000003.11:g.182763304G>C , CM000665.1:g.182763304G>C	GRCh37
NC_000003.10:g.184245998G>C	NCBI36
NG_008100.1:g.59062C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.980C>G MANE Select	NP_064551.3:p.Ser327Ter
ENST00000265594.9:c.980C>G MANE Select	ENSP00000265594.4:p.Ser327Ter
NM_001293273.1:c.629C>G	NP_001280202.1:p.Ser210Ter
NM_001293273.2:c.629C>G	NP_001280202.1:p.Ser210Ter
NM_001363880.1:c.653C>G	NP_001350809.1:p.Ser218Ter
NM_020166.4:c.980C>G	NP_064551.3:p.Ser327Ter
NR_120639.1:n.894C>G
NR_120639.2:n.803C>G
NR_120640.1:n.1647C>G
NR_120640.2:n.1647C>G
ENST00000265594.8:c.980C>G	ENSP00000265594.4:p.Ser327Ter
ENST00000476176.5:c.839C>G	ENSP00000420433.1:p.Ser280Ter
ENST00000492597.5:c.653C>G	ENSP00000419898.1:p.Ser218Ter
ENST00000495767.5:c.*561C>G	ENSP00000419658.1:n.*561C>G
ENST00000497830.5:c.*577C>G	ENSP00000420088.1:n.*577C>G
ENST00000497959.5:c.866C>G	ENSP00000420648.1:p.Ser289Ter
ENST00000539926.5:c.530C>G	ENSP00000441253.2:p.Ser177Ter
ENST00000610757.4:c.530C>G	ENSP00000480435.1:p.Ser177Ter
ENST00000629669.2:c.866C>G	ENSP00000486824.1:p.Ser289Ter
XM_006713702.1:c.653C>G	XP_006713765.1:p.Ser218Ter
XM_011512992.1:c.866C>G	XP_011511294.1:p.Ser289Ter
XM_011512992.2:c.866C>G	XP_011511294.1:p.Ser289Ter
XM_011512993.1:c.980C>G	XP_011511295.1:p.Ser327Ter
XR_001740207.2:n.1103C>G
XR_001740208.2:n.1103C>G
XR_001740209.2:n.1073C>G
XR_001740210.1:n.933C>G
XR_002959553.1:n.1103C>G
XR_002959554.1:n.1103C>G
XR_241502.2:n.1127C>G
XR_241502.3:n.1073C>G
XR_924159.1:n.1127C>G