Canonical Allele Identifier: CA355322076

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756923C>A (hg19) ; chr3:g.183039135C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039135C>A , CM000665.2:g.183039135C>A	GRCh38
NC_000003.11:g.182756923C>A , CM000665.1:g.182756923C>A	GRCh37
NC_000003.10:g.184239617C>A	NCBI36
NG_008100.1:g.65443G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1268G>T MANE Select	ENSP00000265594.4:p.Gly423Val
ENST00000265594.8:c.1268G>T	ENSP00000265594.4:p.Gly423Val
ENST00000476176.5:c.1127G>T	ENSP00000420433.1:p.Gly376Val
ENST00000492597.5:c.941G>T	ENSP00000419898.1:p.Gly314Val
ENST00000495767.5:c.*849G>T	ENSP00000419658.1:n.*849G>T
ENST00000497830.5:c.*865G>T	ENSP00000420088.1:n.*865G>T
ENST00000497959.5:c.1154G>T	ENSP00000420648.1:p.Gly385Val
ENST00000539926.5:c.818G>T	ENSP00000441253.2:p.Gly273Val
ENST00000610757.4:c.818G>T	ENSP00000480435.1:p.Gly273Val
ENST00000629669.2:c.1154G>T	ENSP00000486824.1:p.Gly385Val
NM_001293273.1:c.917G>T	NP_001280202.1:p.Gly306Val
NM_020166.4:c.1268G>T	NP_064551.3:p.Gly423Val
NR_120639.1:n.1182G>T
NR_120640.1:n.1935G>T
XM_006713702.1:c.941G>T	XP_006713765.1:p.Gly314Val
XM_011512992.1:c.1154G>T	XP_011511294.1:p.Gly385Val
XM_011512993.1:c.1268G>T	XP_011511295.1:p.Gly423Val
XR_241502.2:n.1415G>T
XR_924159.1:n.1415G>T
NM_001363880.1:c.941G>T	NP_001350809.1:p.Gly314Val
XM_011512992.2:c.1154G>T	XP_011511294.1:p.Gly385Val
XR_001740207.2:n.1391G>T
XR_001740208.2:n.1391G>T
XR_001740209.2:n.1361G>T
XR_001740210.1:n.1221G>T
XR_002959553.1:n.1391G>T
XR_002959554.1:n.1391G>T
XR_241502.3:n.1361G>T
NM_020166.5:c.1268G>T MANE Select	NP_064551.3:p.Gly423Val
NM_001293273.2:c.917G>T	NP_001280202.1:p.Gly306Val
NR_120639.2:n.1091G>T
NR_120640.2:n.1935G>T