Canonical Allele Identifier: CA355313989

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183017291A>G , CM000665.2:g.183017291A>G	GRCh38
NC_000003.11:g.182735079A>G , CM000665.1:g.182735079A>G	GRCh37
NC_000003.10:g.184217773A>G	NCBI36
NG_008100.1:g.87287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2024T>C MANE Select	ENSP00000265594.4:p.Met675Thr
ENST00000265594.8:c.2024T>C	ENSP00000265594.4:p.Met675Thr
ENST00000464601.5:n.456T>C
ENST00000492597.5:c.1697T>C	ENSP00000419898.1:p.Met566Thr
ENST00000495767.5:c.*1555T>C	ENSP00000419658.1:n.*1555T>C
ENST00000497830.5:c.*1621T>C	ENSP00000420088.1:n.*1621T>C
ENST00000497959.5:c.*485T>C	ENSP00000420648.1:n.*485T>C
ENST00000539926.5:c.1574T>C	ENSP00000441253.2:p.Met525Thr
ENST00000610757.4:c.1574T>C	ENSP00000480435.1:p.Met525Thr
ENST00000629669.2:c.*388T>C	ENSP00000486824.1:n.*388T>C
NM_001293273.1:c.1673T>C	NP_001280202.1:p.Met558Thr
NM_020166.4:c.2024T>C	NP_064551.3:p.Met675Thr
NR_120639.1:n.1888T>C
NR_120640.1:n.2571T>C
XM_006713702.1:c.1697T>C	XP_006713765.1:p.Met566Thr
XM_011512992.1:c.1910T>C	XP_011511294.1:p.Met637Thr
XR_241502.2:n.1954T>C
NM_001363880.1:c.1697T>C	NP_001350809.1:p.Met566Thr
XM_011512992.2:c.1910T>C	XP_011511294.1:p.Met637Thr
XR_001740207.2:n.2244T>C
XR_001740208.2:n.2097T>C
XR_001740209.2:n.1850T>C
XR_001740210.1:n.1927T>C
XR_241502.3:n.1900T>C
NM_020166.5:c.2024T>C MANE Select	NP_064551.3:p.Met675Thr
NM_001293273.2:c.1673T>C	NP_001280202.1:p.Met558Thr
NR_120639.2:n.1797T>C
NR_120640.2:n.2571T>C