Canonical Allele Identifier: CA355313757

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183017270A>C , CM000665.2:g.183017270A>C	GRCh38
NC_000003.11:g.182735058A>C , CM000665.1:g.182735058A>C	GRCh37
NC_000003.10:g.184217752A>C	NCBI36
NG_008100.1:g.87308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2045T>G MANE Select	ENSP00000265594.4:p.Met682Arg
ENST00000265594.8:c.2045T>G	ENSP00000265594.4:p.Met682Arg
ENST00000464601.5:n.477T>G
ENST00000492597.5:c.1718T>G	ENSP00000419898.1:p.Met573Arg
ENST00000495767.5:c.*1576T>G	ENSP00000419658.1:n.*1576T>G
ENST00000497830.5:c.*1642T>G	ENSP00000420088.1:n.*1642T>G
ENST00000497959.5:c.*506T>G	ENSP00000420648.1:n.*506T>G
ENST00000539926.5:c.1595T>G	ENSP00000441253.2:p.Met532Arg
ENST00000610757.4:c.1595T>G	ENSP00000480435.1:p.Met532Arg
ENST00000629669.2:c.*409T>G	ENSP00000486824.1:n.*409T>G
NM_001293273.1:c.1694T>G	NP_001280202.1:p.Met565Arg
NM_020166.4:c.2045T>G	NP_064551.3:p.Met682Arg
NR_120639.1:n.1909T>G
NR_120640.1:n.2592T>G
XM_006713702.1:c.1718T>G	XP_006713765.1:p.Met573Arg
XM_011512992.1:c.1931T>G	XP_011511294.1:p.Met644Arg
XR_241502.2:n.1975T>G
NM_001363880.1:c.1718T>G	NP_001350809.1:p.Met573Arg
XM_011512992.2:c.1931T>G	XP_011511294.1:p.Met644Arg
XR_001740207.2:n.2265T>G
XR_001740208.2:n.2118T>G
XR_001740209.2:n.1871T>G
XR_001740210.1:n.1948T>G
XR_241502.3:n.1921T>G
NM_020166.5:c.2045T>G MANE Select	NP_064551.3:p.Met682Arg
NM_001293273.2:c.1694T>G	NP_001280202.1:p.Met565Arg
NR_120639.2:n.1818T>G
NR_120640.2:n.2592T>G