Canonical Allele Identifier: CA437092573

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755205G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037417G>T , CM000665.2:g.183037417G>T	GRCh38
NC_000003.11:g.182755205G>T , CM000665.1:g.182755205G>T	GRCh37
NC_000003.10:g.184237899G>T	NCBI36
NG_008100.1:g.67161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1395C>A MANE Select	ENSP00000265594.4:p.Thr465=
ENST00000265594.8:c.1395C>A	ENSP00000265594.4:p.Thr465=
ENST00000476176.5:c.1254C>A	ENSP00000420433.1:p.Thr418=
ENST00000492597.5:c.1068C>A	ENSP00000419898.1:p.Thr356=
ENST00000495767.5:c.*976C>A	ENSP00000419658.1:n.*976C>A
ENST00000497830.5:c.*992C>A	ENSP00000420088.1:n.*992C>A
ENST00000497959.5:c.1263+1609C>A	ENSP00000420648.1:n.1263+1609C>A
ENST00000539926.5:c.945C>A	ENSP00000441253.2:p.Thr315=
ENST00000610757.4:c.945C>A	ENSP00000480435.1:p.Thr315=
ENST00000629669.2:c.1263+1609C>A	ENSP00000486824.1:n.1263+1609C>A
NM_001293273.1:c.1044C>A	NP_001280202.1:p.Thr348=
NM_020166.4:c.1395C>A	NP_064551.3:p.Thr465=
NR_120639.1:n.1309C>A
NR_120640.1:n.2044+1609C>A
XM_006713702.1:c.1068C>A	XP_006713765.1:p.Thr356=
XM_011512992.1:c.1281C>A	XP_011511294.1:p.Thr427=
XM_011512993.1:c.1377+1609C>A	XP_011511295.1:n.1377+1609C>A
XR_241502.2:n.1524+1609C>A
XR_924159.1:n.1542C>A
NM_001363880.1:c.1068C>A	NP_001350809.1:p.Thr356=
XM_011512992.2:c.1281C>A	XP_011511294.1:p.Thr427=
XR_001740207.2:n.1518C>A
XR_001740208.2:n.1518C>A
XR_001740209.2:n.1470+1609C>A
XR_001740210.1:n.1348C>A
XR_002959553.1:n.1518C>A
XR_002959554.1:n.1500+1609C>A
XR_241502.3:n.1470+1609C>A
NM_020166.5:c.1395C>A MANE Select	NP_064551.3:p.Thr465=
NM_001293273.2:c.1044C>A	NP_001280202.1:p.Thr348=
NR_120639.2:n.1218C>A
NR_120640.2:n.2044+1609C>A