Canonical Allele Identifier: CA355321915

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 1458732
• ClinVar RCV Id: RCV001975056
• dbSNP Id: rs1453886049
• MyVariant Identifiers: chr3:g.182756858G>A (hg19) ; chr3:g.183039070G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039070G>A , CM000665.2:g.183039070G>A	GRCh38
NC_000003.11:g.182756858G>A , CM000665.1:g.182756858G>A	GRCh37
NC_000003.10:g.184239552G>A	NCBI36
NG_008100.1:g.65508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1333C>T MANE Select	ENSP00000265594.4:p.Gln445Ter
ENST00000265594.8:c.1333C>T	ENSP00000265594.4:p.Gln445Ter
ENST00000476176.5:c.1192C>T	ENSP00000420433.1:p.Gln398Ter
ENST00000492597.5:c.1006C>T	ENSP00000419898.1:p.Gln336Ter
ENST00000495767.5:c.*914C>T	ENSP00000419658.1:n.*914C>T
ENST00000497830.5:c.*930C>T	ENSP00000420088.1:n.*930C>T
ENST00000497959.5:c.1219C>T	ENSP00000420648.1:p.Gln407Ter
ENST00000539926.5:c.883C>T	ENSP00000441253.2:p.Gln295Ter
ENST00000610757.4:c.883C>T	ENSP00000480435.1:p.Gln295Ter
ENST00000629669.2:c.1219C>T	ENSP00000486824.1:p.Gln407Ter
NM_001293273.1:c.982C>T	NP_001280202.1:p.Gln328Ter
NM_020166.4:c.1333C>T	NP_064551.3:p.Gln445Ter
NR_120639.1:n.1247C>T
NR_120640.1:n.2000C>T
XM_006713702.1:c.1006C>T	XP_006713765.1:p.Gln336Ter
XM_011512992.1:c.1219C>T	XP_011511294.1:p.Gln407Ter
XM_011512993.1:c.1333C>T	XP_011511295.1:p.Gln445Ter
XR_241502.2:n.1480C>T
XR_924159.1:n.1480C>T
NM_001363880.1:c.1006C>T	NP_001350809.1:p.Gln336Ter
XM_011512992.2:c.1219C>T	XP_011511294.1:p.Gln407Ter
XR_001740207.2:n.1456C>T
XR_001740208.2:n.1456C>T
XR_001740209.2:n.1426C>T
XR_001740210.1:n.1286C>T
XR_002959553.1:n.1456C>T
XR_002959554.1:n.1456C>T
XR_241502.3:n.1426C>T
NM_020166.5:c.1333C>T MANE Select	NP_064551.3:p.Gln445Ter
NM_001293273.2:c.982C>T	NP_001280202.1:p.Gln328Ter
NR_120639.2:n.1156C>T
NR_120640.2:n.2000C>T