Canonical Allele Identifier: CA355321024

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755200A>T (hg19) ; chr3:g.183037412A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037412A>T , CM000665.2:g.183037412A>T	GRCh38
NC_000003.11:g.182755200A>T , CM000665.1:g.182755200A>T	GRCh37
NC_000003.10:g.184237894A>T	NCBI36
NG_008100.1:g.67166T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1400T>A MANE Select	ENSP00000265594.4:p.Ile467Asn
ENST00000265594.8:c.1400T>A	ENSP00000265594.4:p.Ile467Asn
ENST00000476176.5:c.1259T>A	ENSP00000420433.1:p.Ile420Asn
ENST00000492597.5:c.1073T>A	ENSP00000419898.1:p.Ile358Asn
ENST00000495767.5:c.*981T>A	ENSP00000419658.1:n.*981T>A
ENST00000497830.5:c.*997T>A	ENSP00000420088.1:n.*997T>A
ENST00000497959.5:c.1263+1614T>A	ENSP00000420648.1:n.1263+1614T>A
ENST00000539926.5:c.950T>A	ENSP00000441253.2:p.Ile317Asn
ENST00000610757.4:c.950T>A	ENSP00000480435.1:p.Ile317Asn
ENST00000629669.2:c.1263+1614T>A	ENSP00000486824.1:n.1263+1614T>A
NM_001293273.1:c.1049T>A	NP_001280202.1:p.Ile350Asn
NM_020166.4:c.1400T>A	NP_064551.3:p.Ile467Asn
NR_120639.1:n.1314T>A
NR_120640.1:n.2044+1614T>A
XM_006713702.1:c.1073T>A	XP_006713765.1:p.Ile358Asn
XM_011512992.1:c.1286T>A	XP_011511294.1:p.Ile429Asn
XM_011512993.1:c.1377+1614T>A	XP_011511295.1:n.1377+1614T>A
XR_241502.2:n.1524+1614T>A
XR_924159.1:n.1547T>A
NM_001363880.1:c.1073T>A	NP_001350809.1:p.Ile358Asn
XM_011512992.2:c.1286T>A	XP_011511294.1:p.Ile429Asn
XR_001740207.2:n.1523T>A
XR_001740208.2:n.1523T>A
XR_001740209.2:n.1470+1614T>A
XR_001740210.1:n.1353T>A
XR_002959553.1:n.1523T>A
XR_002959554.1:n.1500+1614T>A
XR_241502.3:n.1470+1614T>A
NM_020166.5:c.1400T>A MANE Select	NP_064551.3:p.Ile467Asn
NM_001293273.2:c.1049T>A	NP_001280202.1:p.Ile350Asn
NR_120639.2:n.1223T>A
NR_120640.2:n.2044+1614T>A