Canonical Allele Identifier: CA437092789

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756859G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039071G>A , CM000665.2:g.183039071G>A	GRCh38
NC_000003.11:g.182756859G>A , CM000665.1:g.182756859G>A	GRCh37
NC_000003.10:g.184239553G>A	NCBI36
NG_008100.1:g.65507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1332C>T MANE Select	ENSP00000265594.4:p.Arg444=
ENST00000265594.8:c.1332C>T	ENSP00000265594.4:p.Arg444=
ENST00000476176.5:c.1191C>T	ENSP00000420433.1:p.Arg397=
ENST00000492597.5:c.1005C>T	ENSP00000419898.1:p.Arg335=
ENST00000495767.5:c.*913C>T	ENSP00000419658.1:n.*913C>T
ENST00000497830.5:c.*929C>T	ENSP00000420088.1:n.*929C>T
ENST00000497959.5:c.1218C>T	ENSP00000420648.1:p.Arg406=
ENST00000539926.5:c.882C>T	ENSP00000441253.2:p.Arg294=
ENST00000610757.4:c.882C>T	ENSP00000480435.1:p.Arg294=
ENST00000629669.2:c.1218C>T	ENSP00000486824.1:p.Arg406=
NM_001293273.1:c.981C>T	NP_001280202.1:p.Arg327=
NM_020166.4:c.1332C>T	NP_064551.3:p.Arg444=
NR_120639.1:n.1246C>T
NR_120640.1:n.1999C>T
XM_006713702.1:c.1005C>T	XP_006713765.1:p.Arg335=
XM_011512992.1:c.1218C>T	XP_011511294.1:p.Arg406=
XM_011512993.1:c.1332C>T	XP_011511295.1:p.Arg444=
XR_241502.2:n.1479C>T
XR_924159.1:n.1479C>T
NM_001363880.1:c.1005C>T	NP_001350809.1:p.Arg335=
XM_011512992.2:c.1218C>T	XP_011511294.1:p.Arg406=
XR_001740207.2:n.1455C>T
XR_001740208.2:n.1455C>T
XR_001740209.2:n.1425C>T
XR_001740210.1:n.1285C>T
XR_002959553.1:n.1455C>T
XR_002959554.1:n.1455C>T
XR_241502.3:n.1425C>T
NM_020166.5:c.1332C>T MANE Select	NP_064551.3:p.Arg444=
NM_001293273.2:c.981C>T	NP_001280202.1:p.Arg327=
NR_120639.2:n.1155C>T
NR_120640.2:n.1999C>T