Canonical Allele Identifier: CA355320417

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755098T>G (hg19) ; chr3:g.183037310T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037310T>G , CM000665.2:g.183037310T>G	GRCh38
NC_000003.11:g.182755098T>G , CM000665.1:g.182755098T>G	GRCh37
NC_000003.10:g.184237792T>G	NCBI36
NG_008100.1:g.67268A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1502A>C MANE Select	ENSP00000265594.4:p.Lys501Thr
ENST00000265594.8:c.1502A>C	ENSP00000265594.4:p.Lys501Thr
ENST00000476176.5:c.1361A>C	ENSP00000420433.1:p.Lys454Thr
ENST00000489909.1:n.46A>C
ENST00000492597.5:c.1175A>C	ENSP00000419898.1:p.Lys392Thr
ENST00000495767.5:c.*1083A>C	ENSP00000419658.1:n.*1083A>C
ENST00000497830.5:c.*1099A>C	ENSP00000420088.1:n.*1099A>C
ENST00000497959.5:c.1263+1716A>C	ENSP00000420648.1:n.1263+1716A>C
ENST00000539926.5:c.1052A>C	ENSP00000441253.2:p.Lys351Thr
ENST00000610757.4:c.1052A>C	ENSP00000480435.1:p.Lys351Thr
ENST00000629669.2:c.1263+1716A>C	ENSP00000486824.1:n.1263+1716A>C
NM_001293273.1:c.1151A>C	NP_001280202.1:p.Lys384Thr
NM_020166.4:c.1502A>C	NP_064551.3:p.Lys501Thr
NR_120639.1:n.1416A>C
NR_120640.1:n.2044+1716A>C
XM_006713702.1:c.1175A>C	XP_006713765.1:p.Lys392Thr
XM_011512992.1:c.1388A>C	XP_011511294.1:p.Lys463Thr
XM_011512993.1:c.1377+1716A>C	XP_011511295.1:n.1377+1716A>C
XR_241502.2:n.1524+1716A>C
XR_924159.1:n.1649A>C
NM_001363880.1:c.1175A>C	NP_001350809.1:p.Lys392Thr
XM_011512992.2:c.1388A>C	XP_011511294.1:p.Lys463Thr
XR_001740207.2:n.1625A>C
XR_001740208.2:n.1625A>C
XR_001740209.2:n.1470+1716A>C
XR_001740210.1:n.1455A>C
XR_002959553.1:n.1625A>C
XR_002959554.1:n.1500+1716A>C
XR_241502.3:n.1470+1716A>C
NM_020166.5:c.1502A>C MANE Select	NP_064551.3:p.Lys501Thr
NM_001293273.2:c.1151A>C	NP_001280202.1:p.Lys384Thr
NR_120639.2:n.1325A>C
NR_120640.2:n.2044+1716A>C