Canonical Allele Identifier: CA355319186

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183086703G>A , CM000665.2:g.183086703G>A	GRCh38
NC_000003.11:g.182804491G>A , CM000665.1:g.182804491G>A	GRCh37
NC_000003.10:g.184287185G>A	NCBI36
NG_008100.1:g.17875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.359C>T MANE Select	ENSP00000265594.4:p.Ser120Phe
ENST00000265594.8:c.359C>T	ENSP00000265594.4:p.Ser120Phe
ENST00000466650.5:c.*78C>T	ENSP00000418979.1:n.*78C>T
ENST00000476176.5:c.218C>T	ENSP00000420433.1:p.Ser73Phe
ENST00000486226.1:c.*116C>T	ENSP00000420223.1:n.*116C>T
ENST00000487634.5:c.136+7856C>T	ENSP00000420591.1:n.136+7856C>T
ENST00000490284.5:c.89+12649C>T	ENSP00000419328.1:n.89+12649C>T
ENST00000492597.5:c.32C>T	ENSP00000419898.1:p.Ser11Phe
ENST00000495767.5:c.136+7856C>T	ENSP00000419658.1:n.136+7856C>T
ENST00000497830.5:c.*78C>T	ENSP00000420088.1:n.*78C>T
ENST00000497959.5:c.245C>T	ENSP00000420648.1:p.Ser82Phe
ENST00000539926.5:c.32C>T	ENSP00000441253.2:p.Ser11Phe
ENST00000610757.4:c.32C>T	ENSP00000480435.1:p.Ser11Phe
ENST00000629669.2:c.245C>T	ENSP00000486824.1:p.Ser82Phe
NM_001293273.1:c.130C>T	NP_001280202.1:p.Leu44=
NM_020166.4:c.359C>T	NP_064551.3:p.Ser120Phe
NR_120639.1:n.283+7856C>T
NR_120640.1:n.1026C>T
XM_006713702.1:c.32C>T	XP_006713765.1:p.Ser11Phe
XM_011512992.1:c.245C>T	XP_011511294.1:p.Ser82Phe
XM_011512993.1:c.359C>T	XP_011511295.1:p.Ser120Phe
XR_241502.2:n.506C>T
XR_924159.1:n.506C>T
NM_001363880.1:c.32C>T	NP_001350809.1:p.Ser11Phe
XM_011512992.2:c.245C>T	XP_011511294.1:p.Ser82Phe
XR_001740207.2:n.482C>T
XR_001740208.2:n.482C>T
XR_001740209.2:n.452C>T
XR_001740210.1:n.312C>T
XR_002959553.1:n.482C>T
XR_002959554.1:n.482C>T
XR_241502.3:n.452C>T
NM_020166.5:c.359C>T MANE Select	NP_064551.3:p.Ser120Phe
NM_001293273.2:c.130C>T	NP_001280202.1:p.Leu44=
NR_120639.2:n.192+7856C>T
NR_120640.2:n.1026C>T