Canonical Allele Identifier: CA548354545

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183020117G>A , CM000665.2:g.183020117G>A	GRCh38
NC_000003.11:g.182737905G>A , CM000665.1:g.182737905G>A	GRCh37
NC_000003.10:g.184220599G>A	NCBI36
NG_008100.1:g.84461C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1977+13C>T MANE Select	NP_064551.3:n.1977+13C>T
ENST00000265594.9:c.1977+13C>T MANE Select	ENSP00000265594.4:n.1977+13C>T
NM_001293273.1:c.1626+13C>T	NP_001280202.1:n.1626+13C>T
NM_001293273.2:c.1626+13C>T	NP_001280202.1:n.1626+13C>T
NM_001363880.1:c.1650+13C>T	NP_001350809.1:n.1650+13C>T
NM_020166.4:c.1977+13C>T	NP_064551.3:n.1977+13C>T
NR_120639.1:n.1841+13C>T
NR_120639.2:n.1750+13C>T
NR_120640.1:n.2524+13C>T
NR_120640.2:n.2524+13C>T
ENST00000265594.8:c.1977+13C>T	ENSP00000265594.4:n.1977+13C>T
ENST00000464601.5:n.409+13C>T
ENST00000492597.5:c.1650+13C>T	ENSP00000419898.1:n.1650+13C>T
ENST00000495767.5:c.*1508+13C>T	ENSP00000419658.1:n.*1508+13C>T
ENST00000497830.5:c.*1574+13C>T	ENSP00000420088.1:n.*1574+13C>T
ENST00000497959.5:c.*438+13C>T	ENSP00000420648.1:n.*438+13C>T
ENST00000539926.5:c.1527+13C>T	ENSP00000441253.2:n.1527+13C>T
ENST00000610757.4:c.1527+13C>T	ENSP00000480435.1:n.1527+13C>T
ENST00000629669.2:c.*341+13C>T	ENSP00000486824.1:n.*341+13C>T
XM_006713702.1:c.1650+13C>T	XP_006713765.1:n.1650+13C>T
XM_011512992.1:c.1863+13C>T	XP_011511294.1:n.1863+13C>T
XM_011512992.2:c.1863+13C>T	XP_011511294.1:n.1863+13C>T
XR_001740207.2:n.2197+13C>T
XR_001740208.2:n.2050+13C>T
XR_001740209.2:n.1803+13C>T
XR_001740210.1:n.1880+13C>T
XR_241502.2:n.1907+13C>T
XR_241502.3:n.1853+13C>T