Canonical Allele Identifier: CA355321993

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756884T>G (hg19) ; chr3:g.183039096T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039096T>G , CM000665.2:g.183039096T>G	GRCh38
NC_000003.11:g.182756884T>G , CM000665.1:g.182756884T>G	GRCh37
NC_000003.10:g.184239578T>G	NCBI36
NG_008100.1:g.65482A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1307A>C MANE Select	ENSP00000265594.4:p.Lys436Thr
ENST00000265594.8:c.1307A>C	ENSP00000265594.4:p.Lys436Thr
ENST00000476176.5:c.1166A>C	ENSP00000420433.1:p.Lys389Thr
ENST00000492597.5:c.980A>C	ENSP00000419898.1:p.Lys327Thr
ENST00000495767.5:c.*888A>C	ENSP00000419658.1:n.*888A>C
ENST00000497830.5:c.*904A>C	ENSP00000420088.1:n.*904A>C
ENST00000497959.5:c.1193A>C	ENSP00000420648.1:p.Lys398Thr
ENST00000539926.5:c.857A>C	ENSP00000441253.2:p.Lys286Thr
ENST00000610757.4:c.857A>C	ENSP00000480435.1:p.Lys286Thr
ENST00000629669.2:c.1193A>C	ENSP00000486824.1:p.Lys398Thr
NM_001293273.1:c.956A>C	NP_001280202.1:p.Lys319Thr
NM_020166.4:c.1307A>C	NP_064551.3:p.Lys436Thr
NR_120639.1:n.1221A>C
NR_120640.1:n.1974A>C
XM_006713702.1:c.980A>C	XP_006713765.1:p.Lys327Thr
XM_011512992.1:c.1193A>C	XP_011511294.1:p.Lys398Thr
XM_011512993.1:c.1307A>C	XP_011511295.1:p.Lys436Thr
XR_241502.2:n.1454A>C
XR_924159.1:n.1454A>C
NM_001363880.1:c.980A>C	NP_001350809.1:p.Lys327Thr
XM_011512992.2:c.1193A>C	XP_011511294.1:p.Lys398Thr
XR_001740207.2:n.1430A>C
XR_001740208.2:n.1430A>C
XR_001740209.2:n.1400A>C
XR_001740210.1:n.1260A>C
XR_002959553.1:n.1430A>C
XR_002959554.1:n.1430A>C
XR_241502.3:n.1400A>C
NM_020166.5:c.1307A>C MANE Select	NP_064551.3:p.Lys436Thr
NM_001293273.2:c.956A>C	NP_001280202.1:p.Lys319Thr
NR_120639.2:n.1130A>C
NR_120640.2:n.1974A>C