Canonical Allele Identifier: CA355322014

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183039105-A-G
• MyVariant Identifiers: chr3:g.182756893A>G (hg19) ; chr3:g.183039105A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039105A>G , CM000665.2:g.183039105A>G	GRCh38
NC_000003.11:g.182756893A>G , CM000665.1:g.182756893A>G	GRCh37
NC_000003.10:g.184239587A>G	NCBI36
NG_008100.1:g.65473T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1298T>C MANE Select	ENSP00000265594.4:p.Met433Thr
ENST00000265594.8:c.1298T>C	ENSP00000265594.4:p.Met433Thr
ENST00000476176.5:c.1157T>C	ENSP00000420433.1:p.Met386Thr
ENST00000492597.5:c.971T>C	ENSP00000419898.1:p.Met324Thr
ENST00000495767.5:c.*879T>C	ENSP00000419658.1:n.*879T>C
ENST00000497830.5:c.*895T>C	ENSP00000420088.1:n.*895T>C
ENST00000497959.5:c.1184T>C	ENSP00000420648.1:p.Met395Thr
ENST00000539926.5:c.848T>C	ENSP00000441253.2:p.Met283Thr
ENST00000610757.4:c.848T>C	ENSP00000480435.1:p.Met283Thr
ENST00000629669.2:c.1184T>C	ENSP00000486824.1:p.Met395Thr
NM_001293273.1:c.947T>C	NP_001280202.1:p.Met316Thr
NM_020166.4:c.1298T>C	NP_064551.3:p.Met433Thr
NR_120639.1:n.1212T>C
NR_120640.1:n.1965T>C
XM_006713702.1:c.971T>C	XP_006713765.1:p.Met324Thr
XM_011512992.1:c.1184T>C	XP_011511294.1:p.Met395Thr
XM_011512993.1:c.1298T>C	XP_011511295.1:p.Met433Thr
XR_241502.2:n.1445T>C
XR_924159.1:n.1445T>C
NM_001363880.1:c.971T>C	NP_001350809.1:p.Met324Thr
XM_011512992.2:c.1184T>C	XP_011511294.1:p.Met395Thr
XR_001740207.2:n.1421T>C
XR_001740208.2:n.1421T>C
XR_001740209.2:n.1391T>C
XR_001740210.1:n.1251T>C
XR_002959553.1:n.1421T>C
XR_002959554.1:n.1421T>C
XR_241502.3:n.1391T>C
NM_020166.5:c.1298T>C MANE Select	NP_064551.3:p.Met433Thr
NM_001293273.2:c.947T>C	NP_001280202.1:p.Met316Thr
NR_120639.2:n.1121T>C
NR_120640.2:n.1965T>C