Canonical Allele Identifier: CA355319909

Gene: MCCC1

Linked Data

• dbSNP Id: rs1194380375
• gnomAD v2: 3-182755027-T-G
• gnomAD v4: 3-183037239-T-G
• MyVariant Identifiers: chr3:g.182755027T>G (hg19) ; chr3:g.183037239T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037239T>G , CM000665.2:g.183037239T>G	GRCh38
NC_000003.11:g.182755027T>G , CM000665.1:g.182755027T>G	GRCh37
NC_000003.10:g.184237721T>G	NCBI36
NG_008100.1:g.67339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1573A>C MANE Select	ENSP00000265594.4:p.Thr525Pro
ENST00000265594.8:c.1573A>C	ENSP00000265594.4:p.Thr525Pro
ENST00000476176.5:c.1432A>C	ENSP00000420433.1:p.Thr478Pro
ENST00000489909.1:n.117A>C
ENST00000492597.5:c.1246A>C	ENSP00000419898.1:p.Thr416Pro
ENST00000495767.5:c.*1154A>C	ENSP00000419658.1:n.*1154A>C
ENST00000497830.5:c.*1170A>C	ENSP00000420088.1:n.*1170A>C
ENST00000497959.5:c.1263+1787A>C	ENSP00000420648.1:n.1263+1787A>C
ENST00000539926.5:c.1123A>C	ENSP00000441253.2:p.Thr375Pro
ENST00000610757.4:c.1123A>C	ENSP00000480435.1:p.Thr375Pro
ENST00000629669.2:c.1263+1787A>C	ENSP00000486824.1:n.1263+1787A>C
NM_001293273.1:c.1222A>C	NP_001280202.1:p.Thr408Pro
NM_020166.4:c.1573A>C	NP_064551.3:p.Thr525Pro
NR_120639.1:n.1487A>C
NR_120640.1:n.2044+1787A>C
XM_006713702.1:c.1246A>C	XP_006713765.1:p.Thr416Pro
XM_011512992.1:c.1459A>C	XP_011511294.1:p.Thr487Pro
XM_011512993.1:c.1377+1787A>C	XP_011511295.1:n.1377+1787A>C
XR_241502.2:n.1524+1787A>C
XR_924159.1:n.1720A>C
NM_001363880.1:c.1246A>C	NP_001350809.1:p.Thr416Pro
XM_011512992.2:c.1459A>C	XP_011511294.1:p.Thr487Pro
XR_001740207.2:n.1696A>C
XR_001740208.2:n.1696A>C
XR_001740209.2:n.1470+1787A>C
XR_001740210.1:n.1526A>C
XR_002959553.1:n.1696A>C
XR_002959554.1:n.1500+1787A>C
XR_241502.3:n.1470+1787A>C
NM_020166.5:c.1573A>C MANE Select	NP_064551.3:p.Thr525Pro
NM_001293273.2:c.1222A>C	NP_001280202.1:p.Thr408Pro
NR_120639.2:n.1396A>C
NR_120640.2:n.2044+1787A>C