Canonical Allele Identifier: CA437092781

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756850T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039062T>A , CM000665.2:g.183039062T>A	GRCh38
NC_000003.11:g.182756850T>A , CM000665.1:g.182756850T>A	GRCh37
NC_000003.10:g.184239544T>A	NCBI36
NG_008100.1:g.65516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1341A>T MANE Select	ENSP00000265594.4:p.Ala447=
ENST00000265594.8:c.1341A>T	ENSP00000265594.4:p.Ala447=
ENST00000476176.5:c.1200A>T	ENSP00000420433.1:p.Ala400=
ENST00000492597.5:c.1014A>T	ENSP00000419898.1:p.Ala338=
ENST00000495767.5:c.*922A>T	ENSP00000419658.1:n.*922A>T
ENST00000497830.5:c.*938A>T	ENSP00000420088.1:n.*938A>T
ENST00000497959.5:c.1227A>T	ENSP00000420648.1:p.Ala409=
ENST00000539926.5:c.891A>T	ENSP00000441253.2:p.Ala297=
ENST00000610757.4:c.891A>T	ENSP00000480435.1:p.Ala297=
ENST00000629669.2:c.1227A>T	ENSP00000486824.1:p.Ala409=
NM_001293273.1:c.990A>T	NP_001280202.1:p.Ala330=
NM_020166.4:c.1341A>T	NP_064551.3:p.Ala447=
NR_120639.1:n.1255A>T
NR_120640.1:n.2008A>T
XM_006713702.1:c.1014A>T	XP_006713765.1:p.Ala338=
XM_011512992.1:c.1227A>T	XP_011511294.1:p.Ala409=
XM_011512993.1:c.1341A>T	XP_011511295.1:p.Ala447=
XR_241502.2:n.1488A>T
XR_924159.1:n.1488A>T
NM_001363880.1:c.1014A>T	NP_001350809.1:p.Ala338=
XM_011512992.2:c.1227A>T	XP_011511294.1:p.Ala409=
XR_001740207.2:n.1464A>T
XR_001740208.2:n.1464A>T
XR_001740209.2:n.1434A>T
XR_001740210.1:n.1294A>T
XR_002959553.1:n.1464A>T
XR_002959554.1:n.1464A>T
XR_241502.3:n.1434A>T
NM_020166.5:c.1341A>T MANE Select	NP_064551.3:p.Ala447=
NM_001293273.2:c.990A>T	NP_001280202.1:p.Ala330=
NR_120639.2:n.1164A>T
NR_120640.2:n.2008A>T