Canonical Allele Identifier: CA234235

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 167270
• ClinVar RCV Id: RCV000153464 ; RCV003133152
• dbSNP Id: rs727504003
• gnomAD v3: 3-183037413-T-A
• gnomAD v4: 3-183037413-T-A
• MyVariant Identifiers: chr3:g.182755201T>A (hg19) ; chr3:g.183037413T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037413T>A , CM000665.2:g.183037413T>A	GRCh38
NC_000003.11:g.182755201T>A , CM000665.1:g.182755201T>A	GRCh37
NC_000003.10:g.184237895T>A	NCBI36
NG_008100.1:g.67165A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1399A>T MANE Select	ENSP00000265594.4:p.Ile467Phe
ENST00000265594.8:c.1399A>T	ENSP00000265594.4:p.Ile467Phe
ENST00000476176.5:c.1258A>T	ENSP00000420433.1:p.Ile420Phe
ENST00000492597.5:c.1072A>T	ENSP00000419898.1:p.Ile358Phe
ENST00000495767.5:c.*980A>T	ENSP00000419658.1:n.*980A>T
ENST00000497830.5:c.*996A>T	ENSP00000420088.1:n.*996A>T
ENST00000497959.5:c.1263+1613A>T	ENSP00000420648.1:n.1263+1613A>T
ENST00000539926.5:c.949A>T	ENSP00000441253.2:p.Ile317Phe
ENST00000610757.4:c.949A>T	ENSP00000480435.1:p.Ile317Phe
ENST00000629669.2:c.1263+1613A>T	ENSP00000486824.1:n.1263+1613A>T
NM_001293273.1:c.1048A>T	NP_001280202.1:p.Ile350Phe
NM_020166.4:c.1399A>T	NP_064551.3:p.Ile467Phe
NR_120639.1:n.1313A>T
NR_120640.1:n.2044+1613A>T
XM_006713702.1:c.1072A>T	XP_006713765.1:p.Ile358Phe
XM_011512992.1:c.1285A>T	XP_011511294.1:p.Ile429Phe
XM_011512993.1:c.1377+1613A>T	XP_011511295.1:n.1377+1613A>T
XR_241502.2:n.1524+1613A>T
XR_924159.1:n.1546A>T
NM_001363880.1:c.1072A>T	NP_001350809.1:p.Ile358Phe
XM_011512992.2:c.1285A>T	XP_011511294.1:p.Ile429Phe
XR_001740207.2:n.1522A>T
XR_001740208.2:n.1522A>T
XR_001740209.2:n.1470+1613A>T
XR_001740210.1:n.1352A>T
XR_002959553.1:n.1522A>T
XR_002959554.1:n.1500+1613A>T
XR_241502.3:n.1470+1613A>T
NM_020166.5:c.1399A>T MANE Select	NP_064551.3:p.Ile467Phe
NM_001293273.2:c.1048A>T	NP_001280202.1:p.Ile350Phe
NR_120639.2:n.1222A>T
NR_120640.2:n.2044+1613A>T