Canonical Allele Identifier: CA2718656

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183022518A>G , CM000665.2:g.183022518A>G	GRCh38
NC_000003.11:g.182740306A>G , CM000665.1:g.182740306A>G	GRCh37
NC_000003.10:g.184223000A>G	NCBI36
NG_008100.1:g.82060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1768T>C MANE Select	ENSP00000265594.4:p.Tyr590His
ENST00000265594.8:c.1768T>C	ENSP00000265594.4:p.Tyr590His
ENST00000464601.5:n.200T>C
ENST00000476176.5:c.1627T>C	ENSP00000420433.1:p.Tyr543His
ENST00000489909.1:n.409T>C
ENST00000492597.5:c.1441T>C	ENSP00000419898.1:p.Tyr481His
ENST00000495767.5:c.*1299T>C	ENSP00000419658.1:n.*1299T>C
ENST00000497830.5:c.*1365T>C	ENSP00000420088.1:n.*1365T>C
ENST00000497959.5:c.*229T>C	ENSP00000420648.1:n.*229T>C
ENST00000539926.5:c.1318T>C	ENSP00000441253.2:p.Tyr440His
ENST00000610757.4:c.1318T>C	ENSP00000480435.1:p.Tyr440His
ENST00000629669.2:c.*132T>C	ENSP00000486824.1:n.*132T>C
NM_001293273.1:c.1417T>C	NP_001280202.1:p.Tyr473His
NM_020166.4:c.1768T>C	NP_064551.3:p.Tyr590His
NR_120639.1:n.1632T>C
NR_120640.1:n.2315T>C
XM_006713702.1:c.1441T>C	XP_006713765.1:p.Tyr481His
XM_011512992.1:c.1654T>C	XP_011511294.1:p.Tyr552His
XR_241502.2:n.1698T>C
XR_924159.1:n.2012T>C
NM_001363880.1:c.1441T>C	NP_001350809.1:p.Tyr481His
XM_011512992.2:c.1654T>C	XP_011511294.1:p.Tyr552His
XR_001740207.2:n.1988T>C
XR_001740208.2:n.1841T>C
XR_001740209.2:n.1594T>C
XR_001740210.1:n.1671T>C
XR_241502.3:n.1644T>C
NM_020166.5:c.1768T>C MANE Select	NP_064551.3:p.Tyr590His
NM_001293273.2:c.1417T>C	NP_001280202.1:p.Tyr473His
NR_120639.2:n.1541T>C
NR_120640.2:n.2315T>C