Canonical Allele Identifier: CA355321865

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183039055-T-G
• MyVariant Identifiers: chr3:g.182756843T>G (hg19) ; chr3:g.183039055T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039055T>G , CM000665.2:g.183039055T>G	GRCh38
NC_000003.11:g.182756843T>G , CM000665.1:g.182756843T>G	GRCh37
NC_000003.10:g.184239537T>G	NCBI36
NG_008100.1:g.65523A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1348A>C MANE Select	ENSP00000265594.4:p.Lys450Gln
ENST00000265594.8:c.1348A>C	ENSP00000265594.4:p.Lys450Gln
ENST00000476176.5:c.1207A>C	ENSP00000420433.1:p.Lys403Gln
ENST00000492597.5:c.1021A>C	ENSP00000419898.1:p.Lys341Gln
ENST00000495767.5:c.*929A>C	ENSP00000419658.1:n.*929A>C
ENST00000497830.5:c.*945A>C	ENSP00000420088.1:n.*945A>C
ENST00000497959.5:c.1234A>C	ENSP00000420648.1:p.Lys412Gln
ENST00000539926.5:c.898A>C	ENSP00000441253.2:p.Lys300Gln
ENST00000610757.4:c.898A>C	ENSP00000480435.1:p.Lys300Gln
ENST00000629669.2:c.1234A>C	ENSP00000486824.1:p.Lys412Gln
NM_001293273.1:c.997A>C	NP_001280202.1:p.Lys333Gln
NM_020166.4:c.1348A>C	NP_064551.3:p.Lys450Gln
NR_120639.1:n.1262A>C
NR_120640.1:n.2015A>C
XM_006713702.1:c.1021A>C	XP_006713765.1:p.Lys341Gln
XM_011512992.1:c.1234A>C	XP_011511294.1:p.Lys412Gln
XM_011512993.1:c.1348A>C	XP_011511295.1:p.Lys450Gln
XR_241502.2:n.1495A>C
XR_924159.1:n.1495A>C
NM_001363880.1:c.1021A>C	NP_001350809.1:p.Lys341Gln
XM_011512992.2:c.1234A>C	XP_011511294.1:p.Lys412Gln
XR_001740207.2:n.1471A>C
XR_001740208.2:n.1471A>C
XR_001740209.2:n.1441A>C
XR_001740210.1:n.1301A>C
XR_002959553.1:n.1471A>C
XR_002959554.1:n.1471A>C
XR_241502.3:n.1441A>C
NM_020166.5:c.1348A>C MANE Select	NP_064551.3:p.Lys450Gln
NM_001293273.2:c.997A>C	NP_001280202.1:p.Lys333Gln
NR_120639.2:n.1171A>C
NR_120640.2:n.2015A>C