Canonical Allele Identifier: CA355322012

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756892C>T (hg19) ; chr3:g.183039104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039104C>T , CM000665.2:g.183039104C>T	GRCh38
NC_000003.11:g.182756892C>T , CM000665.1:g.182756892C>T	GRCh37
NC_000003.10:g.184239586C>T	NCBI36
NG_008100.1:g.65474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1299G>A MANE Select	ENSP00000265594.4:p.Met433Ile
ENST00000265594.8:c.1299G>A	ENSP00000265594.4:p.Met433Ile
ENST00000476176.5:c.1158G>A	ENSP00000420433.1:p.Met386Ile
ENST00000492597.5:c.972G>A	ENSP00000419898.1:p.Met324Ile
ENST00000495767.5:c.*880G>A	ENSP00000419658.1:n.*880G>A
ENST00000497830.5:c.*896G>A	ENSP00000420088.1:n.*896G>A
ENST00000497959.5:c.1185G>A	ENSP00000420648.1:p.Met395Ile
ENST00000539926.5:c.849G>A	ENSP00000441253.2:p.Met283Ile
ENST00000610757.4:c.849G>A	ENSP00000480435.1:p.Met283Ile
ENST00000629669.2:c.1185G>A	ENSP00000486824.1:p.Met395Ile
NM_001293273.1:c.948G>A	NP_001280202.1:p.Met316Ile
NM_020166.4:c.1299G>A	NP_064551.3:p.Met433Ile
NR_120639.1:n.1213G>A
NR_120640.1:n.1966G>A
XM_006713702.1:c.972G>A	XP_006713765.1:p.Met324Ile
XM_011512992.1:c.1185G>A	XP_011511294.1:p.Met395Ile
XM_011512993.1:c.1299G>A	XP_011511295.1:p.Met433Ile
XR_241502.2:n.1446G>A
XR_924159.1:n.1446G>A
NM_001363880.1:c.972G>A	NP_001350809.1:p.Met324Ile
XM_011512992.2:c.1185G>A	XP_011511294.1:p.Met395Ile
XR_001740207.2:n.1422G>A
XR_001740208.2:n.1422G>A
XR_001740209.2:n.1392G>A
XR_001740210.1:n.1252G>A
XR_002959553.1:n.1422G>A
XR_002959554.1:n.1422G>A
XR_241502.3:n.1392G>A
NM_020166.5:c.1299G>A MANE Select	NP_064551.3:p.Met433Ile
NM_001293273.2:c.948G>A	NP_001280202.1:p.Met316Ile
NR_120639.2:n.1122G>A
NR_120640.2:n.1966G>A