Canonical Allele Identifier: CA355322006

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756890A>T (hg19) ; chr3:g.183039102A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039102A>T , CM000665.2:g.183039102A>T	GRCh38
NC_000003.11:g.182756890A>T , CM000665.1:g.182756890A>T	GRCh37
NC_000003.10:g.184239584A>T	NCBI36
NG_008100.1:g.65476T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1301T>A MANE Select	ENSP00000265594.4:p.Ile434Asn
ENST00000265594.8:c.1301T>A	ENSP00000265594.4:p.Ile434Asn
ENST00000476176.5:c.1160T>A	ENSP00000420433.1:p.Ile387Asn
ENST00000492597.5:c.974T>A	ENSP00000419898.1:p.Ile325Asn
ENST00000495767.5:c.*882T>A	ENSP00000419658.1:n.*882T>A
ENST00000497830.5:c.*898T>A	ENSP00000420088.1:n.*898T>A
ENST00000497959.5:c.1187T>A	ENSP00000420648.1:p.Ile396Asn
ENST00000539926.5:c.851T>A	ENSP00000441253.2:p.Ile284Asn
ENST00000610757.4:c.851T>A	ENSP00000480435.1:p.Ile284Asn
ENST00000629669.2:c.1187T>A	ENSP00000486824.1:p.Ile396Asn
NM_001293273.1:c.950T>A	NP_001280202.1:p.Ile317Asn
NM_020166.4:c.1301T>A	NP_064551.3:p.Ile434Asn
NR_120639.1:n.1215T>A
NR_120640.1:n.1968T>A
XM_006713702.1:c.974T>A	XP_006713765.1:p.Ile325Asn
XM_011512992.1:c.1187T>A	XP_011511294.1:p.Ile396Asn
XM_011512993.1:c.1301T>A	XP_011511295.1:p.Ile434Asn
XR_241502.2:n.1448T>A
XR_924159.1:n.1448T>A
NM_001363880.1:c.974T>A	NP_001350809.1:p.Ile325Asn
XM_011512992.2:c.1187T>A	XP_011511294.1:p.Ile396Asn
XR_001740207.2:n.1424T>A
XR_001740208.2:n.1424T>A
XR_001740209.2:n.1394T>A
XR_001740210.1:n.1254T>A
XR_002959553.1:n.1424T>A
XR_002959554.1:n.1424T>A
XR_241502.3:n.1394T>A
NM_020166.5:c.1301T>A MANE Select	NP_064551.3:p.Ile434Asn
NM_001293273.2:c.950T>A	NP_001280202.1:p.Ile317Asn
NR_120639.2:n.1124T>A
NR_120640.2:n.1968T>A