Canonical Allele Identifier: CA2718768

Gene: MCCC1

Linked Data

• dbSNP Id: rs748722209
• ExAC: 3:182755124 G / T
• gnomAD v2: 3-182755124-G-T
• gnomAD v3: 3-183037336-G-T
• gnomAD v4: 3-183037336-G-T
• MyVariant Identifiers: chr3:g.182755124G>T (hg19) ; chr3:g.183037336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037336G>T , CM000665.2:g.183037336G>T	GRCh38
NC_000003.11:g.182755124G>T , CM000665.1:g.182755124G>T	GRCh37
NC_000003.10:g.184237818G>T	NCBI36
NG_008100.1:g.67242C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1476C>A MANE Select	ENSP00000265594.4:p.His492Gln
ENST00000265594.8:c.1476C>A	ENSP00000265594.4:p.His492Gln
ENST00000476176.5:c.1335C>A	ENSP00000420433.1:p.His445Gln
ENST00000489909.1:n.20C>A
ENST00000492597.5:c.1149C>A	ENSP00000419898.1:p.His383Gln
ENST00000495767.5:c.*1057C>A	ENSP00000419658.1:n.*1057C>A
ENST00000497830.5:c.*1073C>A	ENSP00000420088.1:n.*1073C>A
ENST00000497959.5:c.1263+1690C>A	ENSP00000420648.1:n.1263+1690C>A
ENST00000539926.5:c.1026C>A	ENSP00000441253.2:p.His342Gln
ENST00000610757.4:c.1026C>A	ENSP00000480435.1:p.His342Gln
ENST00000629669.2:c.1263+1690C>A	ENSP00000486824.1:n.1263+1690C>A
NM_001293273.1:c.1125C>A	NP_001280202.1:p.His375Gln
NM_020166.4:c.1476C>A	NP_064551.3:p.His492Gln
NR_120639.1:n.1390C>A
NR_120640.1:n.2044+1690C>A
XM_006713702.1:c.1149C>A	XP_006713765.1:p.His383Gln
XM_011512992.1:c.1362C>A	XP_011511294.1:p.His454Gln
XM_011512993.1:c.1377+1690C>A	XP_011511295.1:n.1377+1690C>A
XR_241502.2:n.1524+1690C>A
XR_924159.1:n.1623C>A
NM_001363880.1:c.1149C>A	NP_001350809.1:p.His383Gln
XM_011512992.2:c.1362C>A	XP_011511294.1:p.His454Gln
XR_001740207.2:n.1599C>A
XR_001740208.2:n.1599C>A
XR_001740209.2:n.1470+1690C>A
XR_001740210.1:n.1429C>A
XR_002959553.1:n.1599C>A
XR_002959554.1:n.1500+1690C>A
XR_241502.3:n.1470+1690C>A
NM_020166.5:c.1476C>A MANE Select	NP_064551.3:p.His492Gln
NM_001293273.2:c.1125C>A	NP_001280202.1:p.His375Gln
NR_120639.2:n.1299C>A
NR_120640.2:n.2044+1690C>A