Canonical Allele Identifier: CA355320279

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755076T>G (hg19) ; chr3:g.183037288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037288T>G , CM000665.2:g.183037288T>G	GRCh38
NC_000003.11:g.182755076T>G , CM000665.1:g.182755076T>G	GRCh37
NC_000003.10:g.184237770T>G	NCBI36
NG_008100.1:g.67290A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1524A>C MANE Select	ENSP00000265594.4:p.Leu508Phe
ENST00000265594.8:c.1524A>C	ENSP00000265594.4:p.Leu508Phe
ENST00000476176.5:c.1383A>C	ENSP00000420433.1:p.Leu461Phe
ENST00000489909.1:n.68A>C
ENST00000492597.5:c.1197A>C	ENSP00000419898.1:p.Leu399Phe
ENST00000495767.5:c.*1105A>C	ENSP00000419658.1:n.*1105A>C
ENST00000497830.5:c.*1121A>C	ENSP00000420088.1:n.*1121A>C
ENST00000497959.5:c.1263+1738A>C	ENSP00000420648.1:n.1263+1738A>C
ENST00000539926.5:c.1074A>C	ENSP00000441253.2:p.Leu358Phe
ENST00000610757.4:c.1074A>C	ENSP00000480435.1:p.Leu358Phe
ENST00000629669.2:c.1263+1738A>C	ENSP00000486824.1:n.1263+1738A>C
NM_001293273.1:c.1173A>C	NP_001280202.1:p.Leu391Phe
NM_020166.4:c.1524A>C	NP_064551.3:p.Leu508Phe
NR_120639.1:n.1438A>C
NR_120640.1:n.2044+1738A>C
XM_006713702.1:c.1197A>C	XP_006713765.1:p.Leu399Phe
XM_011512992.1:c.1410A>C	XP_011511294.1:p.Leu470Phe
XM_011512993.1:c.1377+1738A>C	XP_011511295.1:n.1377+1738A>C
XR_241502.2:n.1524+1738A>C
XR_924159.1:n.1671A>C
NM_001363880.1:c.1197A>C	NP_001350809.1:p.Leu399Phe
XM_011512992.2:c.1410A>C	XP_011511294.1:p.Leu470Phe
XR_001740207.2:n.1647A>C
XR_001740208.2:n.1647A>C
XR_001740209.2:n.1470+1738A>C
XR_001740210.1:n.1477A>C
XR_002959553.1:n.1647A>C
XR_002959554.1:n.1500+1738A>C
XR_241502.3:n.1470+1738A>C
NM_020166.5:c.1524A>C MANE Select	NP_064551.3:p.Leu508Phe
NM_001293273.2:c.1173A>C	NP_001280202.1:p.Leu391Phe
NR_120639.2:n.1347A>C
NR_120640.2:n.2044+1738A>C