Canonical Allele Identifier: CA437092530

Gene: MCCC1

Linked Data

• dbSNP Id: rs1305840579
• MyVariant Identifiers: chr3:g.182755148C>G (hg19) ; chr3:g.183037360C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037360C>G , CM000665.2:g.183037360C>G	GRCh38
NC_000003.11:g.182755148C>G , CM000665.1:g.182755148C>G	GRCh37
NC_000003.10:g.184237842C>G	NCBI36
NG_008100.1:g.67218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1452G>C MANE Select	ENSP00000265594.4:p.Val484=
ENST00000265594.8:c.1452G>C	ENSP00000265594.4:p.Val484=
ENST00000476176.5:c.1311G>C	ENSP00000420433.1:p.Val437=
ENST00000492597.5:c.1125G>C	ENSP00000419898.1:p.Val375=
ENST00000495767.5:c.*1033G>C	ENSP00000419658.1:n.*1033G>C
ENST00000497830.5:c.*1049G>C	ENSP00000420088.1:n.*1049G>C
ENST00000497959.5:c.1263+1666G>C	ENSP00000420648.1:n.1263+1666G>C
ENST00000539926.5:c.1002G>C	ENSP00000441253.2:p.Val334=
ENST00000610757.4:c.1002G>C	ENSP00000480435.1:p.Val334=
ENST00000629669.2:c.1263+1666G>C	ENSP00000486824.1:n.1263+1666G>C
NM_001293273.1:c.1101G>C	NP_001280202.1:p.Val367=
NM_020166.4:c.1452G>C	NP_064551.3:p.Val484=
NR_120639.1:n.1366G>C
NR_120640.1:n.2044+1666G>C
XM_006713702.1:c.1125G>C	XP_006713765.1:p.Val375=
XM_011512992.1:c.1338G>C	XP_011511294.1:p.Val446=
XM_011512993.1:c.1377+1666G>C	XP_011511295.1:n.1377+1666G>C
XR_241502.2:n.1524+1666G>C
XR_924159.1:n.1599G>C
NM_001363880.1:c.1125G>C	NP_001350809.1:p.Val375=
XM_011512992.2:c.1338G>C	XP_011511294.1:p.Val446=
XR_001740207.2:n.1575G>C
XR_001740208.2:n.1575G>C
XR_001740209.2:n.1470+1666G>C
XR_001740210.1:n.1405G>C
XR_002959553.1:n.1575G>C
XR_002959554.1:n.1500+1666G>C
XR_241502.3:n.1470+1666G>C
NM_020166.5:c.1452G>C MANE Select	NP_064551.3:p.Val484=
NM_001293273.2:c.1101G>C	NP_001280202.1:p.Val367=
NR_120639.2:n.1275G>C
NR_120640.2:n.2044+1666G>C