Canonical Allele Identifier: CA2718955

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183057312G>A , CM000665.2:g.183057312G>A	GRCh38
NC_000003.11:g.182775100G>A , CM000665.1:g.182775100G>A	GRCh37
NC_000003.10:g.184257794G>A	NCBI36
NG_008100.1:g.47266C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.872C>T MANE Select	NP_064551.3:p.Ala291Val
ENST00000265594.9:c.872C>T MANE Select	ENSP00000265594.4:p.Ala291Val
NM_001293273.1:c.521C>T	NP_001280202.1:p.Ala174Val
NM_001293273.2:c.521C>T	NP_001280202.1:p.Ala174Val
NM_001363880.1:c.545C>T	NP_001350809.1:p.Ala182Val
NM_020166.4:c.872C>T	NP_064551.3:p.Ala291Val
NR_120639.1:n.786C>T
NR_120639.2:n.695C>T
NR_120640.1:n.1539C>T
NR_120640.2:n.1539C>T
ENST00000265594.8:c.872C>T	ENSP00000265594.4:p.Ala291Val
ENST00000476176.5:c.731C>T	ENSP00000420433.1:p.Ala244Val
ENST00000492597.5:c.545C>T	ENSP00000419898.1:p.Ala182Val
ENST00000495767.5:c.*453C>T	ENSP00000419658.1:n.*453C>T
ENST00000497830.5:c.*469C>T	ENSP00000420088.1:n.*469C>T
ENST00000497959.5:c.758C>T	ENSP00000420648.1:p.Ala253Val
ENST00000539926.5:c.422C>T	ENSP00000441253.2:p.Ala141Val
ENST00000610757.4:c.422C>T	ENSP00000480435.1:p.Ala141Val
ENST00000629669.2:c.758C>T	ENSP00000486824.1:p.Ala253Val
XM_006713702.1:c.545C>T	XP_006713765.1:p.Ala182Val
XM_011512992.1:c.758C>T	XP_011511294.1:p.Ala253Val
XM_011512992.2:c.758C>T	XP_011511294.1:p.Ala253Val
XM_011512993.1:c.872C>T	XP_011511295.1:p.Ala291Val
XR_001740207.2:n.995C>T
XR_001740208.2:n.995C>T
XR_001740209.2:n.965C>T
XR_001740210.1:n.825C>T
XR_002959553.1:n.995C>T
XR_002959554.1:n.995C>T
XR_241502.2:n.1019C>T
XR_241502.3:n.965C>T
XR_924159.1:n.1019C>T