Canonical Allele Identifier: CA355321766

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756820C>A (hg19) ; chr3:g.183039032C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039032C>A , CM000665.2:g.183039032C>A	GRCh38
NC_000003.11:g.182756820C>A , CM000665.1:g.182756820C>A	GRCh37
NC_000003.10:g.184239514C>A	NCBI36
NG_008100.1:g.65546G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1371G>T MANE Select	ENSP00000265594.4:p.Gln457His
ENST00000265594.8:c.1371G>T	ENSP00000265594.4:p.Gln457His
ENST00000476176.5:c.1230G>T	ENSP00000420433.1:p.Gln410His
ENST00000492597.5:c.1044G>T	ENSP00000419898.1:p.Gln348His
ENST00000495767.5:c.*952G>T	ENSP00000419658.1:n.*952G>T
ENST00000497830.5:c.*968G>T	ENSP00000420088.1:n.*968G>T
ENST00000497959.5:c.1257G>T	ENSP00000420648.1:p.Gln419His
ENST00000539926.5:c.921G>T	ENSP00000441253.2:p.Gln307His
ENST00000610757.4:c.921G>T	ENSP00000480435.1:p.Gln307His
ENST00000629669.2:c.1257G>T	ENSP00000486824.1:p.Gln419His
NM_001293273.1:c.1020G>T	NP_001280202.1:p.Gln340His
NM_020166.4:c.1371G>T	NP_064551.3:p.Gln457His
NR_120639.1:n.1285G>T
NR_120640.1:n.2038G>T
XM_006713702.1:c.1044G>T	XP_006713765.1:p.Gln348His
XM_011512992.1:c.1257G>T	XP_011511294.1:p.Gln419His
XM_011512993.1:c.1371G>T	XP_011511295.1:p.Gln457His
XR_241502.2:n.1518G>T
XR_924159.1:n.1518G>T
NM_001363880.1:c.1044G>T	NP_001350809.1:p.Gln348His
XM_011512992.2:c.1257G>T	XP_011511294.1:p.Gln419His
XR_001740207.2:n.1494G>T
XR_001740208.2:n.1494G>T
XR_001740209.2:n.1464G>T
XR_001740210.1:n.1324G>T
XR_002959553.1:n.1494G>T
XR_002959554.1:n.1494G>T
XR_241502.3:n.1464G>T
NM_020166.5:c.1371G>T MANE Select	NP_064551.3:p.Gln457His
NM_001293273.2:c.1020G>T	NP_001280202.1:p.Gln340His
NR_120639.2:n.1194G>T
NR_120640.2:n.2038G>T