Canonical Allele Identifier: CA355321017

Gene: MCCC1

Linked Data

• dbSNP Id: rs2108470864
• gnomAD v4: 3-183037410-C-T
• MyVariant Identifiers: chr3:g.182755198C>T (hg19) ; chr3:g.183037410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037410C>T , CM000665.2:g.183037410C>T	GRCh38
NC_000003.11:g.182755198C>T , CM000665.1:g.182755198C>T	GRCh37
NC_000003.10:g.184237892C>T	NCBI36
NG_008100.1:g.67168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1402G>A MANE Select	ENSP00000265594.4:p.Asp468Asn
ENST00000265594.8:c.1402G>A	ENSP00000265594.4:p.Asp468Asn
ENST00000476176.5:c.1261G>A	ENSP00000420433.1:p.Asp421Asn
ENST00000492597.5:c.1075G>A	ENSP00000419898.1:p.Asp359Asn
ENST00000495767.5:c.*983G>A	ENSP00000419658.1:n.*983G>A
ENST00000497830.5:c.*999G>A	ENSP00000420088.1:n.*999G>A
ENST00000497959.5:c.1263+1616G>A	ENSP00000420648.1:n.1263+1616G>A
ENST00000539926.5:c.952G>A	ENSP00000441253.2:p.Asp318Asn
ENST00000610757.4:c.952G>A	ENSP00000480435.1:p.Asp318Asn
ENST00000629669.2:c.1263+1616G>A	ENSP00000486824.1:n.1263+1616G>A
NM_001293273.1:c.1051G>A	NP_001280202.1:p.Asp351Asn
NM_020166.4:c.1402G>A	NP_064551.3:p.Asp468Asn
NR_120639.1:n.1316G>A
NR_120640.1:n.2044+1616G>A
XM_006713702.1:c.1075G>A	XP_006713765.1:p.Asp359Asn
XM_011512992.1:c.1288G>A	XP_011511294.1:p.Asp430Asn
XM_011512993.1:c.1377+1616G>A	XP_011511295.1:n.1377+1616G>A
XR_241502.2:n.1524+1616G>A
XR_924159.1:n.1549G>A
NM_001363880.1:c.1075G>A	NP_001350809.1:p.Asp359Asn
XM_011512992.2:c.1288G>A	XP_011511294.1:p.Asp430Asn
XR_001740207.2:n.1525G>A
XR_001740208.2:n.1525G>A
XR_001740209.2:n.1470+1616G>A
XR_001740210.1:n.1355G>A
XR_002959553.1:n.1525G>A
XR_002959554.1:n.1500+1616G>A
XR_241502.3:n.1470+1616G>A
NM_020166.5:c.1402G>A MANE Select	NP_064551.3:p.Asp468Asn
NM_001293273.2:c.1051G>A	NP_001280202.1:p.Asp351Asn
NR_120639.2:n.1225G>A
NR_120640.2:n.2044+1616G>A