Canonical Allele Identifier: CA355321882

Gene: MCCC1

Linked Data

• dbSNP Id: rs1713852035
• gnomAD v4: 3-183039060-A-G
• MyVariant Identifiers: chr3:g.182756848A>G (hg19) ; chr3:g.183039060A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039060A>G , CM000665.2:g.183039060A>G	GRCh38
NC_000003.11:g.182756848A>G , CM000665.1:g.182756848A>G	GRCh37
NC_000003.10:g.184239542A>G	NCBI36
NG_008100.1:g.65518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1343T>C MANE Select	ENSP00000265594.4:p.Leu448Ser
ENST00000265594.8:c.1343T>C	ENSP00000265594.4:p.Leu448Ser
ENST00000476176.5:c.1202T>C	ENSP00000420433.1:p.Leu401Ser
ENST00000492597.5:c.1016T>C	ENSP00000419898.1:p.Leu339Ser
ENST00000495767.5:c.*924T>C	ENSP00000419658.1:n.*924T>C
ENST00000497830.5:c.*940T>C	ENSP00000420088.1:n.*940T>C
ENST00000497959.5:c.1229T>C	ENSP00000420648.1:p.Leu410Ser
ENST00000539926.5:c.893T>C	ENSP00000441253.2:p.Leu298Ser
ENST00000610757.4:c.893T>C	ENSP00000480435.1:p.Leu298Ser
ENST00000629669.2:c.1229T>C	ENSP00000486824.1:p.Leu410Ser
NM_001293273.1:c.992T>C	NP_001280202.1:p.Leu331Ser
NM_020166.4:c.1343T>C	NP_064551.3:p.Leu448Ser
NR_120639.1:n.1257T>C
NR_120640.1:n.2010T>C
XM_006713702.1:c.1016T>C	XP_006713765.1:p.Leu339Ser
XM_011512992.1:c.1229T>C	XP_011511294.1:p.Leu410Ser
XM_011512993.1:c.1343T>C	XP_011511295.1:p.Leu448Ser
XR_241502.2:n.1490T>C
XR_924159.1:n.1490T>C
NM_001363880.1:c.1016T>C	NP_001350809.1:p.Leu339Ser
XM_011512992.2:c.1229T>C	XP_011511294.1:p.Leu410Ser
XR_001740207.2:n.1466T>C
XR_001740208.2:n.1466T>C
XR_001740209.2:n.1436T>C
XR_001740210.1:n.1296T>C
XR_002959553.1:n.1466T>C
XR_002959554.1:n.1466T>C
XR_241502.3:n.1436T>C
NM_020166.5:c.1343T>C MANE Select	NP_064551.3:p.Leu448Ser
NM_001293273.2:c.992T>C	NP_001280202.1:p.Leu331Ser
NR_120639.2:n.1166T>C
NR_120640.2:n.2010T>C