Canonical Allele Identifier: CA355322075

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756921C>A (hg19) ; chr3:g.183039133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039133C>A , CM000665.2:g.183039133C>A	GRCh38
NC_000003.11:g.182756921C>A , CM000665.1:g.182756921C>A	GRCh37
NC_000003.10:g.184239615C>A	NCBI36
NG_008100.1:g.65445G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1270G>T MANE Select	ENSP00000265594.4:p.Asp424Tyr
ENST00000265594.8:c.1270G>T	ENSP00000265594.4:p.Asp424Tyr
ENST00000476176.5:c.1129G>T	ENSP00000420433.1:p.Asp377Tyr
ENST00000492597.5:c.943G>T	ENSP00000419898.1:p.Asp315Tyr
ENST00000495767.5:c.*851G>T	ENSP00000419658.1:n.*851G>T
ENST00000497830.5:c.*867G>T	ENSP00000420088.1:n.*867G>T
ENST00000497959.5:c.1156G>T	ENSP00000420648.1:p.Asp386Tyr
ENST00000539926.5:c.820G>T	ENSP00000441253.2:p.Asp274Tyr
ENST00000610757.4:c.820G>T	ENSP00000480435.1:p.Asp274Tyr
ENST00000629669.2:c.1156G>T	ENSP00000486824.1:p.Asp386Tyr
NM_001293273.1:c.919G>T	NP_001280202.1:p.Asp307Tyr
NM_020166.4:c.1270G>T	NP_064551.3:p.Asp424Tyr
NR_120639.1:n.1184G>T
NR_120640.1:n.1937G>T
XM_006713702.1:c.943G>T	XP_006713765.1:p.Asp315Tyr
XM_011512992.1:c.1156G>T	XP_011511294.1:p.Asp386Tyr
XM_011512993.1:c.1270G>T	XP_011511295.1:p.Asp424Tyr
XR_241502.2:n.1417G>T
XR_924159.1:n.1417G>T
NM_001363880.1:c.943G>T	NP_001350809.1:p.Asp315Tyr
XM_011512992.2:c.1156G>T	XP_011511294.1:p.Asp386Tyr
XR_001740207.2:n.1393G>T
XR_001740208.2:n.1393G>T
XR_001740209.2:n.1363G>T
XR_001740210.1:n.1223G>T
XR_002959553.1:n.1393G>T
XR_002959554.1:n.1393G>T
XR_241502.3:n.1363G>T
NM_020166.5:c.1270G>T MANE Select	NP_064551.3:p.Asp424Tyr
NM_001293273.2:c.919G>T	NP_001280202.1:p.Asp307Tyr
NR_120639.2:n.1093G>T
NR_120640.2:n.1937G>T