Canonical Allele Identifier: CA355322040

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756903A>G (hg19) ; chr3:g.183039115A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039115A>G , CM000665.2:g.183039115A>G	GRCh38
NC_000003.11:g.182756903A>G , CM000665.1:g.182756903A>G	GRCh37
NC_000003.10:g.184239597A>G	NCBI36
NG_008100.1:g.65463T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1288T>C MANE Select	ENSP00000265594.4:p.Tyr430His
ENST00000265594.8:c.1288T>C	ENSP00000265594.4:p.Tyr430His
ENST00000476176.5:c.1147T>C	ENSP00000420433.1:p.Tyr383His
ENST00000492597.5:c.961T>C	ENSP00000419898.1:p.Tyr321His
ENST00000495767.5:c.*869T>C	ENSP00000419658.1:n.*869T>C
ENST00000497830.5:c.*885T>C	ENSP00000420088.1:n.*885T>C
ENST00000497959.5:c.1174T>C	ENSP00000420648.1:p.Tyr392His
ENST00000539926.5:c.838T>C	ENSP00000441253.2:p.Tyr280His
ENST00000610757.4:c.838T>C	ENSP00000480435.1:p.Tyr280His
ENST00000629669.2:c.1174T>C	ENSP00000486824.1:p.Tyr392His
NM_001293273.1:c.937T>C	NP_001280202.1:p.Tyr313His
NM_020166.4:c.1288T>C	NP_064551.3:p.Tyr430His
NR_120639.1:n.1202T>C
NR_120640.1:n.1955T>C
XM_006713702.1:c.961T>C	XP_006713765.1:p.Tyr321His
XM_011512992.1:c.1174T>C	XP_011511294.1:p.Tyr392His
XM_011512993.1:c.1288T>C	XP_011511295.1:p.Tyr430His
XR_241502.2:n.1435T>C
XR_924159.1:n.1435T>C
NM_001363880.1:c.961T>C	NP_001350809.1:p.Tyr321His
XM_011512992.2:c.1174T>C	XP_011511294.1:p.Tyr392His
XR_001740207.2:n.1411T>C
XR_001740208.2:n.1411T>C
XR_001740209.2:n.1381T>C
XR_001740210.1:n.1241T>C
XR_002959553.1:n.1411T>C
XR_002959554.1:n.1411T>C
XR_241502.3:n.1381T>C
NM_020166.5:c.1288T>C MANE Select	NP_064551.3:p.Tyr430His
NM_001293273.2:c.937T>C	NP_001280202.1:p.Tyr313His
NR_120639.2:n.1111T>C
NR_120640.2:n.1955T>C