Canonical Allele Identifier: CA355321791

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756827A>C (hg19) ; chr3:g.183039039A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039039A>C , CM000665.2:g.183039039A>C	GRCh38
NC_000003.11:g.182756827A>C , CM000665.1:g.182756827A>C	GRCh37
NC_000003.10:g.184239521A>C	NCBI36
NG_008100.1:g.65539T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1364T>G MANE Select	ENSP00000265594.4:p.Leu455Arg
ENST00000265594.8:c.1364T>G	ENSP00000265594.4:p.Leu455Arg
ENST00000476176.5:c.1223T>G	ENSP00000420433.1:p.Leu408Arg
ENST00000492597.5:c.1037T>G	ENSP00000419898.1:p.Leu346Arg
ENST00000495767.5:c.*945T>G	ENSP00000419658.1:n.*945T>G
ENST00000497830.5:c.*961T>G	ENSP00000420088.1:n.*961T>G
ENST00000497959.5:c.1250T>G	ENSP00000420648.1:p.Leu417Arg
ENST00000539926.5:c.914T>G	ENSP00000441253.2:p.Leu305Arg
ENST00000610757.4:c.914T>G	ENSP00000480435.1:p.Leu305Arg
ENST00000629669.2:c.1250T>G	ENSP00000486824.1:p.Leu417Arg
NM_001293273.1:c.1013T>G	NP_001280202.1:p.Leu338Arg
NM_020166.4:c.1364T>G	NP_064551.3:p.Leu455Arg
NR_120639.1:n.1278T>G
NR_120640.1:n.2031T>G
XM_006713702.1:c.1037T>G	XP_006713765.1:p.Leu346Arg
XM_011512992.1:c.1250T>G	XP_011511294.1:p.Leu417Arg
XM_011512993.1:c.1364T>G	XP_011511295.1:p.Leu455Arg
XR_241502.2:n.1511T>G
XR_924159.1:n.1511T>G
NM_001363880.1:c.1037T>G	NP_001350809.1:p.Leu346Arg
XM_011512992.2:c.1250T>G	XP_011511294.1:p.Leu417Arg
XR_001740207.2:n.1487T>G
XR_001740208.2:n.1487T>G
XR_001740209.2:n.1457T>G
XR_001740210.1:n.1317T>G
XR_002959553.1:n.1487T>G
XR_002959554.1:n.1487T>G
XR_241502.3:n.1457T>G
NM_020166.5:c.1364T>G MANE Select	NP_064551.3:p.Leu455Arg
NM_001293273.2:c.1013T>G	NP_001280202.1:p.Leu338Arg
NR_120639.2:n.1187T>G
NR_120640.2:n.2031T>G