Canonical Allele Identifier: CA355320556

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755117G>T (hg19) ; chr3:g.183037329G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037329G>T , CM000665.2:g.183037329G>T	GRCh38
NC_000003.11:g.182755117G>T , CM000665.1:g.182755117G>T	GRCh37
NC_000003.10:g.184237811G>T	NCBI36
NG_008100.1:g.67249C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1483C>A MANE Select	ENSP00000265594.4:p.Gln495Lys
ENST00000265594.8:c.1483C>A	ENSP00000265594.4:p.Gln495Lys
ENST00000476176.5:c.1342C>A	ENSP00000420433.1:p.Gln448Lys
ENST00000489909.1:n.27C>A
ENST00000492597.5:c.1156C>A	ENSP00000419898.1:p.Gln386Lys
ENST00000495767.5:c.*1064C>A	ENSP00000419658.1:n.*1064C>A
ENST00000497830.5:c.*1080C>A	ENSP00000420088.1:n.*1080C>A
ENST00000497959.5:c.1263+1697C>A	ENSP00000420648.1:n.1263+1697C>A
ENST00000539926.5:c.1033C>A	ENSP00000441253.2:p.Gln345Lys
ENST00000610757.4:c.1033C>A	ENSP00000480435.1:p.Gln345Lys
ENST00000629669.2:c.1263+1697C>A	ENSP00000486824.1:n.1263+1697C>A
NM_001293273.1:c.1132C>A	NP_001280202.1:p.Gln378Lys
NM_020166.4:c.1483C>A	NP_064551.3:p.Gln495Lys
NR_120639.1:n.1397C>A
NR_120640.1:n.2044+1697C>A
XM_006713702.1:c.1156C>A	XP_006713765.1:p.Gln386Lys
XM_011512992.1:c.1369C>A	XP_011511294.1:p.Gln457Lys
XM_011512993.1:c.1377+1697C>A	XP_011511295.1:n.1377+1697C>A
XR_241502.2:n.1524+1697C>A
XR_924159.1:n.1630C>A
NM_001363880.1:c.1156C>A	NP_001350809.1:p.Gln386Lys
XM_011512992.2:c.1369C>A	XP_011511294.1:p.Gln457Lys
XR_001740207.2:n.1606C>A
XR_001740208.2:n.1606C>A
XR_001740209.2:n.1470+1697C>A
XR_001740210.1:n.1436C>A
XR_002959553.1:n.1606C>A
XR_002959554.1:n.1500+1697C>A
XR_241502.3:n.1470+1697C>A
NM_020166.5:c.1483C>A MANE Select	NP_064551.3:p.Gln495Lys
NM_001293273.2:c.1132C>A	NP_001280202.1:p.Gln378Lys
NR_120639.2:n.1306C>A
NR_120640.2:n.2044+1697C>A