Canonical Allele Identifier: CA88701120

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 1199832
• ClinVar RCV Id: RCV001564641
• dbSNP Id: rs1000891879
• gnomAD v4: 3-183037418-G-A
• MyVariant Identifiers: chr3:g.182755206G>A (hg19) ; chr3:g.183037418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037418G>A , CM000665.2:g.183037418G>A	GRCh38
NC_000003.11:g.182755206G>A , CM000665.1:g.182755206G>A	GRCh37
NC_000003.10:g.184237900G>A	NCBI36
NG_008100.1:g.67160C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1394C>T MANE Select	ENSP00000265594.4:p.Thr465Ile
ENST00000265594.8:c.1394C>T	ENSP00000265594.4:p.Thr465Ile
ENST00000476176.5:c.1253C>T	ENSP00000420433.1:p.Thr418Ile
ENST00000492597.5:c.1067C>T	ENSP00000419898.1:p.Thr356Ile
ENST00000495767.5:c.*975C>T	ENSP00000419658.1:n.*975C>T
ENST00000497830.5:c.*991C>T	ENSP00000420088.1:n.*991C>T
ENST00000497959.5:c.1263+1608C>T	ENSP00000420648.1:n.1263+1608C>T
ENST00000539926.5:c.944C>T	ENSP00000441253.2:p.Thr315Ile
ENST00000610757.4:c.944C>T	ENSP00000480435.1:p.Thr315Ile
ENST00000629669.2:c.1263+1608C>T	ENSP00000486824.1:n.1263+1608C>T
NM_001293273.1:c.1043C>T	NP_001280202.1:p.Thr348Ile
NM_020166.4:c.1394C>T	NP_064551.3:p.Thr465Ile
NR_120639.1:n.1308C>T
NR_120640.1:n.2044+1608C>T
XM_006713702.1:c.1067C>T	XP_006713765.1:p.Thr356Ile
XM_011512992.1:c.1280C>T	XP_011511294.1:p.Thr427Ile
XM_011512993.1:c.1377+1608C>T	XP_011511295.1:n.1377+1608C>T
XR_241502.2:n.1524+1608C>T
XR_924159.1:n.1541C>T
NM_001363880.1:c.1067C>T	NP_001350809.1:p.Thr356Ile
XM_011512992.2:c.1280C>T	XP_011511294.1:p.Thr427Ile
XR_001740207.2:n.1517C>T
XR_001740208.2:n.1517C>T
XR_001740209.2:n.1470+1608C>T
XR_001740210.1:n.1347C>T
XR_002959553.1:n.1517C>T
XR_002959554.1:n.1500+1608C>T
XR_241502.3:n.1470+1608C>T
NM_020166.5:c.1394C>T MANE Select	NP_064551.3:p.Thr465Ile
NM_001293273.2:c.1043C>T	NP_001280202.1:p.Thr348Ile
NR_120639.2:n.1217C>T
NR_120640.2:n.2044+1608C>T