Canonical Allele Identifier: CA355321992

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756883C>G (hg19) ; chr3:g.183039095C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1308G>C MANE Select	ENSP00000265594.4:p.Lys436Asn
ENST00000265594.8:c.1308G>C	ENSP00000265594.4:p.Lys436Asn
ENST00000476176.5:c.1167G>C	ENSP00000420433.1:p.Lys389Asn
ENST00000492597.5:c.981G>C	ENSP00000419898.1:p.Lys327Asn
ENST00000495767.5:c.*889G>C	ENSP00000419658.1:n.*889G>C
ENST00000497830.5:c.*905G>C	ENSP00000420088.1:n.*905G>C
ENST00000497959.5:c.1194G>C	ENSP00000420648.1:p.Lys398Asn
ENST00000539926.5:c.858G>C	ENSP00000441253.2:p.Lys286Asn
ENST00000610757.4:c.858G>C	ENSP00000480435.1:p.Lys286Asn
ENST00000629669.2:c.1194G>C	ENSP00000486824.1:p.Lys398Asn
NM_001293273.1:c.957G>C	NP_001280202.1:p.Lys319Asn
NM_020166.4:c.1308G>C	NP_064551.3:p.Lys436Asn
NR_120639.1:n.1222G>C
NR_120640.1:n.1975G>C
XM_006713702.1:c.981G>C	XP_006713765.1:p.Lys327Asn
XM_011512992.1:c.1194G>C	XP_011511294.1:p.Lys398Asn
XM_011512993.1:c.1308G>C	XP_011511295.1:p.Lys436Asn
XR_241502.2:n.1455G>C
XR_924159.1:n.1455G>C
NM_001363880.1:c.981G>C	NP_001350809.1:p.Lys327Asn
XM_011512992.2:c.1194G>C	XP_011511294.1:p.Lys398Asn
XR_001740207.2:n.1431G>C
XR_001740208.2:n.1431G>C
XR_001740209.2:n.1401G>C
XR_001740210.1:n.1261G>C
XR_002959553.1:n.1431G>C
XR_002959554.1:n.1431G>C
XR_241502.3:n.1401G>C
NM_020166.5:c.1308G>C MANE Select	NP_064551.3:p.Lys436Asn
NM_001293273.2:c.957G>C	NP_001280202.1:p.Lys319Asn
NR_120639.2:n.1131G>C
NR_120640.2:n.1975G>C