Canonical Allele Identifier: CA355322081

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 641648
• ClinVar RCV Id: RCV000794932
• dbSNP Id: rs1191868168
• gnomAD v2: 3-182756924-C-T
• gnomAD v3: 3-183039136-C-T
• gnomAD v4: 3-183039136-C-T
• MyVariant Identifiers: chr3:g.182756924C>T (hg19) ; chr3:g.183039136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039136C>T , CM000665.2:g.183039136C>T	GRCh38
NC_000003.11:g.182756924C>T , CM000665.1:g.182756924C>T	GRCh37
NC_000003.10:g.184239618C>T	NCBI36
NG_008100.1:g.65442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1268-1G>A MANE Select	ENSP00000265594.4:n.1268-1G>A
ENST00000265594.8:c.1268-1G>A	ENSP00000265594.4:n.1268-1G>A
ENST00000476176.5:c.1127-1G>A	ENSP00000420433.1:n.1127-1G>A
ENST00000492597.5:c.941-1G>A	ENSP00000419898.1:n.941-1G>A
ENST00000495767.5:c.*849-1G>A	ENSP00000419658.1:n.*849-1G>A
ENST00000497830.5:c.*865-1G>A	ENSP00000420088.1:n.*865-1G>A
ENST00000497959.5:c.1154-1G>A	ENSP00000420648.1:n.1154-1G>A
ENST00000539926.5:c.818-1G>A	ENSP00000441253.2:n.818-1G>A
ENST00000610757.4:c.818-1G>A	ENSP00000480435.1:n.818-1G>A
ENST00000629669.2:c.1154-1G>A	ENSP00000486824.1:n.1154-1G>A
NM_001293273.1:c.917-1G>A	NP_001280202.1:n.917-1G>A
NM_020166.4:c.1268-1G>A	NP_064551.3:n.1268-1G>A
NR_120639.1:n.1182-1G>A
NR_120640.1:n.1935-1G>A
XM_006713702.1:c.941-1G>A	XP_006713765.1:n.941-1G>A
XM_011512992.1:c.1154-1G>A	XP_011511294.1:n.1154-1G>A
XM_011512993.1:c.1268-1G>A	XP_011511295.1:n.1268-1G>A
XR_241502.2:n.1415-1G>A
XR_924159.1:n.1415-1G>A
NM_001363880.1:c.941-1G>A	NP_001350809.1:n.941-1G>A
XM_011512992.2:c.1154-1G>A	XP_011511294.1:n.1154-1G>A
XR_001740207.2:n.1391-1G>A
XR_001740208.2:n.1391-1G>A
XR_001740209.2:n.1361-1G>A
XR_001740210.1:n.1221-1G>A
XR_002959553.1:n.1391-1G>A
XR_002959554.1:n.1391-1G>A
XR_241502.3:n.1361-1G>A
NM_020166.5:c.1268-1G>A MANE Select	NP_064551.3:n.1268-1G>A
NM_001293273.2:c.917-1G>A	NP_001280202.1:n.917-1G>A
NR_120639.2:n.1091-1G>A
NR_120640.2:n.1935-1G>A