Canonical Allele Identifier: CA437092809

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756883C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039095C>T , CM000665.2:g.183039095C>T	GRCh38
NC_000003.11:g.182756883C>T , CM000665.1:g.182756883C>T	GRCh37
NC_000003.10:g.184239577C>T	NCBI36
NG_008100.1:g.65483G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1308G>A MANE Select	ENSP00000265594.4:p.Lys436=
ENST00000265594.8:c.1308G>A	ENSP00000265594.4:p.Lys436=
ENST00000476176.5:c.1167G>A	ENSP00000420433.1:p.Lys389=
ENST00000492597.5:c.981G>A	ENSP00000419898.1:p.Lys327=
ENST00000495767.5:c.*889G>A	ENSP00000419658.1:n.*889G>A
ENST00000497830.5:c.*905G>A	ENSP00000420088.1:n.*905G>A
ENST00000497959.5:c.1194G>A	ENSP00000420648.1:p.Lys398=
ENST00000539926.5:c.858G>A	ENSP00000441253.2:p.Lys286=
ENST00000610757.4:c.858G>A	ENSP00000480435.1:p.Lys286=
ENST00000629669.2:c.1194G>A	ENSP00000486824.1:p.Lys398=
NM_001293273.1:c.957G>A	NP_001280202.1:p.Lys319=
NM_020166.4:c.1308G>A	NP_064551.3:p.Lys436=
NR_120639.1:n.1222G>A
NR_120640.1:n.1975G>A
XM_006713702.1:c.981G>A	XP_006713765.1:p.Lys327=
XM_011512992.1:c.1194G>A	XP_011511294.1:p.Lys398=
XM_011512993.1:c.1308G>A	XP_011511295.1:p.Lys436=
XR_241502.2:n.1455G>A
XR_924159.1:n.1455G>A
NM_001363880.1:c.981G>A	NP_001350809.1:p.Lys327=
XM_011512992.2:c.1194G>A	XP_011511294.1:p.Lys398=
XR_001740207.2:n.1431G>A
XR_001740208.2:n.1431G>A
XR_001740209.2:n.1401G>A
XR_001740210.1:n.1261G>A
XR_002959553.1:n.1431G>A
XR_002959554.1:n.1431G>A
XR_241502.3:n.1401G>A
NM_020166.5:c.1308G>A MANE Select	NP_064551.3:p.Lys436=
NM_001293273.2:c.957G>A	NP_001280202.1:p.Lys319=
NR_120639.2:n.1131G>A
NR_120640.2:n.1975G>A