Canonical Allele Identifier: CA355315444

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183020225C>A , CM000665.2:g.183020225C>A	GRCh38
NC_000003.11:g.182738013C>A , CM000665.1:g.182738013C>A	GRCh37
NC_000003.10:g.184220707C>A	NCBI36
NG_008100.1:g.84353G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1882G>T MANE Select	NP_064551.3:p.Glu628Ter
ENST00000265594.9:c.1882G>T MANE Select	ENSP00000265594.4:p.Glu628Ter
NM_001293273.1:c.1531G>T	NP_001280202.1:p.Glu511Ter
NM_001293273.2:c.1531G>T	NP_001280202.1:p.Glu511Ter
NM_001363880.1:c.1555G>T	NP_001350809.1:p.Glu519Ter
NM_020166.4:c.1882G>T	NP_064551.3:p.Glu628Ter
NR_120639.1:n.1746G>T
NR_120639.2:n.1655G>T
NR_120640.1:n.2429G>T
NR_120640.2:n.2429G>T
ENST00000265594.8:c.1882G>T	ENSP00000265594.4:p.Glu628Ter
ENST00000464601.5:n.314G>T
ENST00000476176.5:c.1741G>T	ENSP00000420433.1:p.Glu581Ter
ENST00000492597.5:c.1555G>T	ENSP00000419898.1:p.Glu519Ter
ENST00000495767.5:c.*1413G>T	ENSP00000419658.1:n.*1413G>T
ENST00000497830.5:c.*1479G>T	ENSP00000420088.1:n.*1479G>T
ENST00000497959.5:c.*343G>T	ENSP00000420648.1:n.*343G>T
ENST00000539926.5:c.1432G>T	ENSP00000441253.2:p.Glu478Ter
ENST00000610757.4:c.1432G>T	ENSP00000480435.1:p.Glu478Ter
ENST00000629669.2:c.*246G>T	ENSP00000486824.1:n.*246G>T
XM_006713702.1:c.1555G>T	XP_006713765.1:p.Glu519Ter
XM_011512992.1:c.1768G>T	XP_011511294.1:p.Glu590Ter
XM_011512992.2:c.1768G>T	XP_011511294.1:p.Glu590Ter
XR_001740207.2:n.2102G>T
XR_001740208.2:n.1955G>T
XR_001740209.2:n.1708G>T
XR_001740210.1:n.1785G>T
XR_241502.2:n.1812G>T
XR_241502.3:n.1758G>T