Canonical Allele Identifier: CA355321129

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755221A>T (hg19) ; chr3:g.183037433A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037433A>T , CM000665.2:g.183037433A>T	GRCh38
NC_000003.11:g.182755221A>T , CM000665.1:g.182755221A>T	GRCh37
NC_000003.10:g.184237915A>T	NCBI36
NG_008100.1:g.67145T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1379T>A MANE Select	ENSP00000265594.4:p.Ile460Asn
ENST00000265594.8:c.1379T>A	ENSP00000265594.4:p.Ile460Asn
ENST00000476176.5:c.1238T>A	ENSP00000420433.1:p.Ile413Asn
ENST00000492597.5:c.1052T>A	ENSP00000419898.1:p.Ile351Asn
ENST00000495767.5:c.*960T>A	ENSP00000419658.1:n.*960T>A
ENST00000497830.5:c.*976T>A	ENSP00000420088.1:n.*976T>A
ENST00000497959.5:c.1263+1593T>A	ENSP00000420648.1:n.1263+1593T>A
ENST00000539926.5:c.929T>A	ENSP00000441253.2:p.Ile310Asn
ENST00000610757.4:c.929T>A	ENSP00000480435.1:p.Ile310Asn
ENST00000629669.2:c.1263+1593T>A	ENSP00000486824.1:n.1263+1593T>A
NM_001293273.1:c.1028T>A	NP_001280202.1:p.Ile343Asn
NM_020166.4:c.1379T>A	NP_064551.3:p.Ile460Asn
NR_120639.1:n.1293T>A
NR_120640.1:n.2044+1593T>A
XM_006713702.1:c.1052T>A	XP_006713765.1:p.Ile351Asn
XM_011512992.1:c.1265T>A	XP_011511294.1:p.Ile422Asn
XM_011512993.1:c.1377+1593T>A	XP_011511295.1:n.1377+1593T>A
XR_241502.2:n.1524+1593T>A
XR_924159.1:n.1526T>A
NM_001363880.1:c.1052T>A	NP_001350809.1:p.Ile351Asn
XM_011512992.2:c.1265T>A	XP_011511294.1:p.Ile422Asn
XR_001740207.2:n.1502T>A
XR_001740208.2:n.1502T>A
XR_001740209.2:n.1470+1593T>A
XR_001740210.1:n.1332T>A
XR_002959553.1:n.1502T>A
XR_002959554.1:n.1500+1593T>A
XR_241502.3:n.1470+1593T>A
NM_020166.5:c.1379T>A MANE Select	NP_064551.3:p.Ile460Asn
NM_001293273.2:c.1028T>A	NP_001280202.1:p.Ile343Asn
NR_120639.2:n.1202T>A
NR_120640.2:n.2044+1593T>A