Canonical Allele Identifier: CA88698509

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183034179A>G , CM000665.2:g.183034179A>G	GRCh38
NC_000003.11:g.182751967A>G , CM000665.1:g.182751967A>G	GRCh37
NC_000003.10:g.184234661A>G	NCBI36
NG_008100.1:g.70399T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1595-102T>C MANE Select	NP_064551.3:n.1595-102T>C
ENST00000265594.9:c.1595-102T>C MANE Select	ENSP00000265594.4:n.1595-102T>C
NM_001293273.1:c.1244-102T>C	NP_001280202.1:n.1244-102T>C
NM_001293273.2:c.1244-102T>C	NP_001280202.1:n.1244-102T>C
NM_001363880.1:c.1268-102T>C	NP_001350809.1:n.1268-102T>C
NM_020166.4:c.1595-102T>C	NP_064551.3:n.1595-102T>C
NR_120639.1:n.1509-102T>C
NR_120639.2:n.1418-102T>C
NR_120640.1:n.2045-102T>C
NR_120640.2:n.2045-102T>C
ENST00000265594.8:c.1595-102T>C	ENSP00000265594.4:n.1595-102T>C
ENST00000476176.5:c.1454-102T>C	ENSP00000420433.1:n.1454-102T>C
ENST00000489909.1:n.139-102T>C
ENST00000492597.5:c.1268-102T>C	ENSP00000419898.1:n.1268-102T>C
ENST00000495767.5:c.*1176-102T>C	ENSP00000419658.1:n.*1176-102T>C
ENST00000497830.5:c.*1192-102T>C	ENSP00000420088.1:n.*1192-102T>C
ENST00000497959.5:c.1264-102T>C	ENSP00000420648.1:n.1264-102T>C
ENST00000539926.5:c.1145-102T>C	ENSP00000441253.2:n.1145-102T>C
ENST00000610757.4:c.1145-102T>C	ENSP00000480435.1:n.1145-102T>C
ENST00000629669.2:c.1264-102T>C	ENSP00000486824.1:n.1264-102T>C
XM_006713702.1:c.1268-102T>C	XP_006713765.1:n.1268-102T>C
XM_011512992.1:c.1481-102T>C	XP_011511294.1:n.1481-102T>C
XM_011512992.2:c.1481-102T>C	XP_011511294.1:n.1481-102T>C
XM_011512993.1:c.1378-102T>C	XP_011511295.1:n.1378-102T>C
XR_001740207.2:n.1718-102T>C
XR_001740208.2:n.1718-102T>C
XR_001740209.2:n.1471-102T>C
XR_001740210.1:n.1548-102T>C
XR_002959553.1:n.1718-102T>C
XR_002959554.1:n.1501-102T>C
XR_241502.2:n.1525-102T>C
XR_241502.3:n.1471-102T>C
XR_924159.1:n.1742-102T>C