Canonical Allele Identifier: CA355322055

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756912A>C (hg19) ; chr3:g.183039124A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039124A>C , CM000665.2:g.183039124A>C	GRCh38
NC_000003.11:g.182756912A>C , CM000665.1:g.182756912A>C	GRCh37
NC_000003.10:g.184239606A>C	NCBI36
NG_008100.1:g.65454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1279T>G MANE Select	ENSP00000265594.4:p.Ser427Ala
ENST00000265594.8:c.1279T>G	ENSP00000265594.4:p.Ser427Ala
ENST00000476176.5:c.1138T>G	ENSP00000420433.1:p.Ser380Ala
ENST00000492597.5:c.952T>G	ENSP00000419898.1:p.Ser318Ala
ENST00000495767.5:c.*860T>G	ENSP00000419658.1:n.*860T>G
ENST00000497830.5:c.*876T>G	ENSP00000420088.1:n.*876T>G
ENST00000497959.5:c.1165T>G	ENSP00000420648.1:p.Ser389Ala
ENST00000539926.5:c.829T>G	ENSP00000441253.2:p.Ser277Ala
ENST00000610757.4:c.829T>G	ENSP00000480435.1:p.Ser277Ala
ENST00000629669.2:c.1165T>G	ENSP00000486824.1:p.Ser389Ala
NM_001293273.1:c.928T>G	NP_001280202.1:p.Ser310Ala
NM_020166.4:c.1279T>G	NP_064551.3:p.Ser427Ala
NR_120639.1:n.1193T>G
NR_120640.1:n.1946T>G
XM_006713702.1:c.952T>G	XP_006713765.1:p.Ser318Ala
XM_011512992.1:c.1165T>G	XP_011511294.1:p.Ser389Ala
XM_011512993.1:c.1279T>G	XP_011511295.1:p.Ser427Ala
XR_241502.2:n.1426T>G
XR_924159.1:n.1426T>G
NM_001363880.1:c.952T>G	NP_001350809.1:p.Ser318Ala
XM_011512992.2:c.1165T>G	XP_011511294.1:p.Ser389Ala
XR_001740207.2:n.1402T>G
XR_001740208.2:n.1402T>G
XR_001740209.2:n.1372T>G
XR_001740210.1:n.1232T>G
XR_002959553.1:n.1402T>G
XR_002959554.1:n.1402T>G
XR_241502.3:n.1372T>G
NM_020166.5:c.1279T>G MANE Select	NP_064551.3:p.Ser427Ala
NM_001293273.2:c.928T>G	NP_001280202.1:p.Ser310Ala
NR_120639.2:n.1102T>G
NR_120640.2:n.1946T>G