Canonical Allele Identifier: CA437092577

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755211C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037423C>A , CM000665.2:g.183037423C>A	GRCh38
NC_000003.11:g.182755211C>A , CM000665.1:g.182755211C>A	GRCh37
NC_000003.10:g.184237905C>A	NCBI36
NG_008100.1:g.67155G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1389G>T MANE Select	ENSP00000265594.4:p.Leu463=
ENST00000265594.8:c.1389G>T	ENSP00000265594.4:p.Leu463=
ENST00000476176.5:c.1248G>T	ENSP00000420433.1:p.Leu416=
ENST00000492597.5:c.1062G>T	ENSP00000419898.1:p.Leu354=
ENST00000495767.5:c.*970G>T	ENSP00000419658.1:n.*970G>T
ENST00000497830.5:c.*986G>T	ENSP00000420088.1:n.*986G>T
ENST00000497959.5:c.1263+1603G>T	ENSP00000420648.1:n.1263+1603G>T
ENST00000539926.5:c.939G>T	ENSP00000441253.2:p.Leu313=
ENST00000610757.4:c.939G>T	ENSP00000480435.1:p.Leu313=
ENST00000629669.2:c.1263+1603G>T	ENSP00000486824.1:n.1263+1603G>T
NM_001293273.1:c.1038G>T	NP_001280202.1:p.Leu346=
NM_020166.4:c.1389G>T	NP_064551.3:p.Leu463=
NR_120639.1:n.1303G>T
NR_120640.1:n.2044+1603G>T
XM_006713702.1:c.1062G>T	XP_006713765.1:p.Leu354=
XM_011512992.1:c.1275G>T	XP_011511294.1:p.Leu425=
XM_011512993.1:c.1377+1603G>T	XP_011511295.1:n.1377+1603G>T
XR_241502.2:n.1524+1603G>T
XR_924159.1:n.1536G>T
NM_001363880.1:c.1062G>T	NP_001350809.1:p.Leu354=
XM_011512992.2:c.1275G>T	XP_011511294.1:p.Leu425=
XR_001740207.2:n.1512G>T
XR_001740208.2:n.1512G>T
XR_001740209.2:n.1470+1603G>T
XR_001740210.1:n.1342G>T
XR_002959553.1:n.1512G>T
XR_002959554.1:n.1500+1603G>T
XR_241502.3:n.1470+1603G>T
NM_020166.5:c.1389G>T MANE Select	NP_064551.3:p.Leu463=
NM_001293273.2:c.1038G>T	NP_001280202.1:p.Leu346=
NR_120639.2:n.1212G>T
NR_120640.2:n.2044+1603G>T