Canonical Allele Identifier: CA355321072

Gene: MCCC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037421T>A , CM000665.2:g.183037421T>A	GRCh38
NC_000003.11:g.182755209T>A , CM000665.1:g.182755209T>A	GRCh37
NC_000003.10:g.184237903T>A	NCBI36
NG_008100.1:g.67157A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1391A>T MANE Select	ENSP00000265594.4:p.His464Leu
ENST00000265594.8:c.1391A>T	ENSP00000265594.4:p.His464Leu
ENST00000476176.5:c.1250A>T	ENSP00000420433.1:p.His417Leu
ENST00000492597.5:c.1064A>T	ENSP00000419898.1:p.His355Leu
ENST00000495767.5:c.*972A>T	ENSP00000419658.1:n.*972A>T
ENST00000497830.5:c.*988A>T	ENSP00000420088.1:n.*988A>T
ENST00000497959.5:c.1263+1605A>T	ENSP00000420648.1:n.1263+1605A>T
ENST00000539926.5:c.941A>T	ENSP00000441253.2:p.His314Leu
ENST00000610757.4:c.941A>T	ENSP00000480435.1:p.His314Leu
ENST00000629669.2:c.1263+1605A>T	ENSP00000486824.1:n.1263+1605A>T
NM_001293273.1:c.1040A>T	NP_001280202.1:p.His347Leu
NM_020166.4:c.1391A>T	NP_064551.3:p.His464Leu
NR_120639.1:n.1305A>T
NR_120640.1:n.2044+1605A>T
XM_006713702.1:c.1064A>T	XP_006713765.1:p.His355Leu
XM_011512992.1:c.1277A>T	XP_011511294.1:p.His426Leu
XM_011512993.1:c.1377+1605A>T	XP_011511295.1:n.1377+1605A>T
XR_241502.2:n.1524+1605A>T
XR_924159.1:n.1538A>T
NM_001363880.1:c.1064A>T	NP_001350809.1:p.His355Leu
XM_011512992.2:c.1277A>T	XP_011511294.1:p.His426Leu
XR_001740207.2:n.1514A>T
XR_001740208.2:n.1514A>T
XR_001740209.2:n.1470+1605A>T
XR_001740210.1:n.1344A>T
XR_002959553.1:n.1514A>T
XR_002959554.1:n.1500+1605A>T
XR_241502.3:n.1470+1605A>T
NM_020166.5:c.1391A>T MANE Select	NP_064551.3:p.His464Leu
NM_001293273.2:c.1040A>T	NP_001280202.1:p.His347Leu
NR_120639.2:n.1214A>T
NR_120640.2:n.2044+1605A>T