Canonical Allele Identifier: CA355321958

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756870C>G (hg19) ; chr3:g.183039082C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039082C>G , CM000665.2:g.183039082C>G	GRCh38
NC_000003.11:g.182756870C>G , CM000665.1:g.182756870C>G	GRCh37
NC_000003.10:g.184239564C>G	NCBI36
NG_008100.1:g.65496G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1321G>C MANE Select	ENSP00000265594.4:p.Ala441Pro
ENST00000265594.8:c.1321G>C	ENSP00000265594.4:p.Ala441Pro
ENST00000476176.5:c.1180G>C	ENSP00000420433.1:p.Ala394Pro
ENST00000492597.5:c.994G>C	ENSP00000419898.1:p.Ala332Pro
ENST00000495767.5:c.*902G>C	ENSP00000419658.1:n.*902G>C
ENST00000497830.5:c.*918G>C	ENSP00000420088.1:n.*918G>C
ENST00000497959.5:c.1207G>C	ENSP00000420648.1:p.Ala403Pro
ENST00000539926.5:c.871G>C	ENSP00000441253.2:p.Ala291Pro
ENST00000610757.4:c.871G>C	ENSP00000480435.1:p.Ala291Pro
ENST00000629669.2:c.1207G>C	ENSP00000486824.1:p.Ala403Pro
NM_001293273.1:c.970G>C	NP_001280202.1:p.Ala324Pro
NM_020166.4:c.1321G>C	NP_064551.3:p.Ala441Pro
NR_120639.1:n.1235G>C
NR_120640.1:n.1988G>C
XM_006713702.1:c.994G>C	XP_006713765.1:p.Ala332Pro
XM_011512992.1:c.1207G>C	XP_011511294.1:p.Ala403Pro
XM_011512993.1:c.1321G>C	XP_011511295.1:p.Ala441Pro
XR_241502.2:n.1468G>C
XR_924159.1:n.1468G>C
NM_001363880.1:c.994G>C	NP_001350809.1:p.Ala332Pro
XM_011512992.2:c.1207G>C	XP_011511294.1:p.Ala403Pro
XR_001740207.2:n.1444G>C
XR_001740208.2:n.1444G>C
XR_001740209.2:n.1414G>C
XR_001740210.1:n.1274G>C
XR_002959553.1:n.1444G>C
XR_002959554.1:n.1444G>C
XR_241502.3:n.1414G>C
NM_020166.5:c.1321G>C MANE Select	NP_064551.3:p.Ala441Pro
NM_001293273.2:c.970G>C	NP_001280202.1:p.Ala324Pro
NR_120639.2:n.1144G>C
NR_120640.2:n.1988G>C