Canonical Allele Identifier: CA355320164

Gene: MCCC1

Linked Data

• dbSNP Id: rs2108470472
• gnomAD v4: 3-183037277-G-A
• MyVariant Identifiers: chr3:g.182755065G>A (hg19) ; chr3:g.183037277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037277G>A , CM000665.2:g.183037277G>A	GRCh38
NC_000003.11:g.182755065G>A , CM000665.1:g.182755065G>A	GRCh37
NC_000003.10:g.184237759G>A	NCBI36
NG_008100.1:g.67301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1535C>T MANE Select	ENSP00000265594.4:p.Ala512Val
ENST00000265594.8:c.1535C>T	ENSP00000265594.4:p.Ala512Val
ENST00000476176.5:c.1394C>T	ENSP00000420433.1:p.Ala465Val
ENST00000489909.1:n.79C>T
ENST00000492597.5:c.1208C>T	ENSP00000419898.1:p.Ala403Val
ENST00000495767.5:c.*1116C>T	ENSP00000419658.1:n.*1116C>T
ENST00000497830.5:c.*1132C>T	ENSP00000420088.1:n.*1132C>T
ENST00000497959.5:c.1263+1749C>T	ENSP00000420648.1:n.1263+1749C>T
ENST00000539926.5:c.1085C>T	ENSP00000441253.2:p.Ala362Val
ENST00000610757.4:c.1085C>T	ENSP00000480435.1:p.Ala362Val
ENST00000629669.2:c.1263+1749C>T	ENSP00000486824.1:n.1263+1749C>T
NM_001293273.1:c.1184C>T	NP_001280202.1:p.Ala395Val
NM_020166.4:c.1535C>T	NP_064551.3:p.Ala512Val
NR_120639.1:n.1449C>T
NR_120640.1:n.2044+1749C>T
XM_006713702.1:c.1208C>T	XP_006713765.1:p.Ala403Val
XM_011512992.1:c.1421C>T	XP_011511294.1:p.Ala474Val
XM_011512993.1:c.1377+1749C>T	XP_011511295.1:n.1377+1749C>T
XR_241502.2:n.1524+1749C>T
XR_924159.1:n.1682C>T
NM_001363880.1:c.1208C>T	NP_001350809.1:p.Ala403Val
XM_011512992.2:c.1421C>T	XP_011511294.1:p.Ala474Val
XR_001740207.2:n.1658C>T
XR_001740208.2:n.1658C>T
XR_001740209.2:n.1470+1749C>T
XR_001740210.1:n.1488C>T
XR_002959553.1:n.1658C>T
XR_002959554.1:n.1500+1749C>T
XR_241502.3:n.1470+1749C>T
NM_020166.5:c.1535C>T MANE Select	NP_064551.3:p.Ala512Val
NM_001293273.2:c.1184C>T	NP_001280202.1:p.Ala395Val
NR_120639.2:n.1358C>T
NR_120640.2:n.2044+1749C>T