Canonical Allele Identifier: CA355321782

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756824C>A (hg19) ; chr3:g.183039036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039036C>A , CM000665.2:g.183039036C>A	GRCh38
NC_000003.11:g.182756824C>A , CM000665.1:g.182756824C>A	GRCh37
NC_000003.10:g.184239518C>A	NCBI36
NG_008100.1:g.65542G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1367G>T MANE Select	ENSP00000265594.4:p.Arg456Leu
ENST00000265594.8:c.1367G>T	ENSP00000265594.4:p.Arg456Leu
ENST00000476176.5:c.1226G>T	ENSP00000420433.1:p.Arg409Leu
ENST00000492597.5:c.1040G>T	ENSP00000419898.1:p.Arg347Leu
ENST00000495767.5:c.*948G>T	ENSP00000419658.1:n.*948G>T
ENST00000497830.5:c.*964G>T	ENSP00000420088.1:n.*964G>T
ENST00000497959.5:c.1253G>T	ENSP00000420648.1:p.Arg418Leu
ENST00000539926.5:c.917G>T	ENSP00000441253.2:p.Arg306Leu
ENST00000610757.4:c.917G>T	ENSP00000480435.1:p.Arg306Leu
ENST00000629669.2:c.1253G>T	ENSP00000486824.1:p.Arg418Leu
NM_001293273.1:c.1016G>T	NP_001280202.1:p.Arg339Leu
NM_020166.4:c.1367G>T	NP_064551.3:p.Arg456Leu
NR_120639.1:n.1281G>T
NR_120640.1:n.2034G>T
XM_006713702.1:c.1040G>T	XP_006713765.1:p.Arg347Leu
XM_011512992.1:c.1253G>T	XP_011511294.1:p.Arg418Leu
XM_011512993.1:c.1367G>T	XP_011511295.1:p.Arg456Leu
XR_241502.2:n.1514G>T
XR_924159.1:n.1514G>T
NM_001363880.1:c.1040G>T	NP_001350809.1:p.Arg347Leu
XM_011512992.2:c.1253G>T	XP_011511294.1:p.Arg418Leu
XR_001740207.2:n.1490G>T
XR_001740208.2:n.1490G>T
XR_001740209.2:n.1460G>T
XR_001740210.1:n.1320G>T
XR_002959553.1:n.1490G>T
XR_002959554.1:n.1490G>T
XR_241502.3:n.1460G>T
NM_020166.5:c.1367G>T MANE Select	NP_064551.3:p.Arg456Leu
NM_001293273.2:c.1016G>T	NP_001280202.1:p.Arg339Leu
NR_120639.2:n.1190G>T
NR_120640.2:n.2034G>T