Canonical Allele Identifier: CA2718956

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 476400
• ClinVar RCV Id: RCV002298662
• dbSNP Id: rs746500530
• ExAC: 3:182775109 T / C
• gnomAD v2: 3-182775109-T-C
• gnomAD v3: 3-183057321-T-C
• gnomAD v4: 3-183057321-T-C
• MyVariant Identifiers: chr3:g.182775109T>C (hg19) ; chr3:g.183057321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183057321T>C , CM000665.2:g.183057321T>C	GRCh38
NC_000003.11:g.182775109T>C , CM000665.1:g.182775109T>C	GRCh37
NC_000003.10:g.184257803T>C	NCBI36
NG_008100.1:g.47257A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.863A>G MANE Select	ENSP00000265594.4:p.Glu288Gly
ENST00000265594.8:c.863A>G	ENSP00000265594.4:p.Glu288Gly
ENST00000476176.5:c.722A>G	ENSP00000420433.1:p.Glu241Gly
ENST00000492597.5:c.536A>G	ENSP00000419898.1:p.Glu179Gly
ENST00000495767.5:c.*444A>G	ENSP00000419658.1:n.*444A>G
ENST00000497830.5:c.*460A>G	ENSP00000420088.1:n.*460A>G
ENST00000497959.5:c.749A>G	ENSP00000420648.1:p.Glu250Gly
ENST00000539926.5:c.413A>G	ENSP00000441253.2:p.Glu138Gly
ENST00000610757.4:c.413A>G	ENSP00000480435.1:p.Glu138Gly
ENST00000629669.2:c.749A>G	ENSP00000486824.1:p.Glu250Gly
NM_001293273.1:c.512A>G	NP_001280202.1:p.Glu171Gly
NM_020166.4:c.863A>G	NP_064551.3:p.Glu288Gly
NR_120639.1:n.777A>G
NR_120640.1:n.1530A>G
XM_006713702.1:c.536A>G	XP_006713765.1:p.Glu179Gly
XM_011512992.1:c.749A>G	XP_011511294.1:p.Glu250Gly
XM_011512993.1:c.863A>G	XP_011511295.1:p.Glu288Gly
XR_241502.2:n.1010A>G
XR_924159.1:n.1010A>G
NM_001363880.1:c.536A>G	NP_001350809.1:p.Glu179Gly
XM_011512992.2:c.749A>G	XP_011511294.1:p.Glu250Gly
XR_001740207.2:n.986A>G
XR_001740208.2:n.986A>G
XR_001740209.2:n.956A>G
XR_001740210.1:n.816A>G
XR_002959553.1:n.986A>G
XR_002959554.1:n.986A>G
XR_241502.3:n.956A>G
NM_020166.5:c.863A>G MANE Select	NP_064551.3:p.Glu288Gly
NM_001293273.2:c.512A>G	NP_001280202.1:p.Glu171Gly
NR_120639.2:n.686A>G
NR_120640.2:n.1530A>G