Canonical Allele Identifier: CA355315485

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183020234C>A , CM000665.2:g.183020234C>A	GRCh38
NC_000003.11:g.182738022C>A , CM000665.1:g.182738022C>A	GRCh37
NC_000003.10:g.184220716C>A	NCBI36
NG_008100.1:g.84344G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1873G>T MANE Select	NP_064551.3:p.Gly625Ter
ENST00000265594.9:c.1873G>T MANE Select	ENSP00000265594.4:p.Gly625Ter
NM_001293273.1:c.1522G>T	NP_001280202.1:p.Gly508Ter
NM_001293273.2:c.1522G>T	NP_001280202.1:p.Gly508Ter
NM_001363880.1:c.1546G>T	NP_001350809.1:p.Gly516Ter
NM_020166.4:c.1873G>T	NP_064551.3:p.Gly625Ter
NR_120639.1:n.1737G>T
NR_120639.2:n.1646G>T
NR_120640.1:n.2420G>T
NR_120640.2:n.2420G>T
ENST00000265594.8:c.1873G>T	ENSP00000265594.4:p.Gly625Ter
ENST00000464601.5:n.305G>T
ENST00000476176.5:c.1732G>T	ENSP00000420433.1:p.Gly578Ter
ENST00000492597.5:c.1546G>T	ENSP00000419898.1:p.Gly516Ter
ENST00000495767.5:c.*1404G>T	ENSP00000419658.1:n.*1404G>T
ENST00000497830.5:c.*1470G>T	ENSP00000420088.1:n.*1470G>T
ENST00000497959.5:c.*334G>T	ENSP00000420648.1:n.*334G>T
ENST00000539926.5:c.1423G>T	ENSP00000441253.2:p.Gly475Ter
ENST00000610757.4:c.1423G>T	ENSP00000480435.1:p.Gly475Ter
ENST00000629669.2:c.*237G>T	ENSP00000486824.1:n.*237G>T
XM_006713702.1:c.1546G>T	XP_006713765.1:p.Gly516Ter
XM_011512992.1:c.1759G>T	XP_011511294.1:p.Gly587Ter
XM_011512992.2:c.1759G>T	XP_011511294.1:p.Gly587Ter
XR_001740207.2:n.2093G>T
XR_001740208.2:n.1946G>T
XR_001740209.2:n.1699G>T
XR_001740210.1:n.1776G>T
XR_241502.2:n.1803G>T
XR_241502.3:n.1749G>T