Canonical Allele Identifier: CA88693688

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183025879C>A , CM000665.2:g.183025879C>A	GRCh38
NC_000003.11:g.182743667C>A , CM000665.1:g.182743667C>A	GRCh37
NC_000003.10:g.184226361C>A	NCBI36
NG_008100.1:g.78699G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1682-75G>T MANE Select	NP_064551.3:n.1682-75G>T
ENST00000265594.9:c.1682-75G>T MANE Select	ENSP00000265594.4:n.1682-75G>T
NM_001293273.1:c.1331-75G>T	NP_001280202.1:n.1331-75G>T
NM_001293273.2:c.1331-75G>T	NP_001280202.1:n.1331-75G>T
NM_001363880.1:c.1355-75G>T	NP_001350809.1:n.1355-75G>T
NM_020166.4:c.1682-75G>T	NP_064551.3:n.1682-75G>T
NR_120639.1:n.1596-3325G>T
NR_120639.2:n.1505-3325G>T
NR_120640.1:n.2229-75G>T
NR_120640.2:n.2229-75G>T
ENST00000265594.8:c.1682-75G>T	ENSP00000265594.4:n.1682-75G>T
ENST00000476176.5:c.1541-75G>T	ENSP00000420433.1:n.1541-75G>T
ENST00000489909.1:n.323-75G>T
ENST00000492597.5:c.1355-75G>T	ENSP00000419898.1:n.1355-75G>T
ENST00000495767.5:c.*1263-3325G>T	ENSP00000419658.1:n.*1263-3325G>T
ENST00000497830.5:c.*1279-75G>T	ENSP00000420088.1:n.*1279-75G>T
ENST00000497959.5:c.*143-75G>T	ENSP00000420648.1:n.*143-75G>T
ENST00000539926.5:c.1232-75G>T	ENSP00000441253.2:n.1232-75G>T
ENST00000610757.4:c.1232-75G>T	ENSP00000480435.1:n.1232-75G>T
ENST00000629669.2:c.*46-75G>T	ENSP00000486824.1:n.*46-75G>T
XM_006713702.1:c.1355-75G>T	XP_006713765.1:n.1355-75G>T
XM_011512992.1:c.1568-75G>T	XP_011511294.1:n.1568-75G>T
XM_011512992.2:c.1568-75G>T	XP_011511294.1:n.1568-75G>T
XR_001740207.2:n.1902-75G>T
XR_001740208.2:n.1805-3325G>T
XR_001740209.2:n.1558-3325G>T
XR_001740210.1:n.1635-3325G>T
XR_002959554.1:n.1685-75G>T
XR_241502.2:n.1612-75G>T
XR_241502.3:n.1558-75G>T
XR_924159.1:n.1926-75G>T