Canonical Allele Identifier: CA149061

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 95941
• ClinVar RCV Id: RCV000081992 ; RCV000987368 ; RCV001682786
• dbSNP Id: rs2270968
• ExAC: 3:182755209 T / G
• gnomAD v2: 3-182755209-T-G
• gnomAD v3: 3-183037421-T-G
• gnomAD v4: 3-183037421-T-G
• MyVariant Identifiers: chr3:g.182755209T>G (hg19) ; chr3:g.183037421T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1391A>C MANE Select	ENSP00000265594.4:p.His464Pro
ENST00000265594.8:c.1391A>C	ENSP00000265594.4:p.His464Pro
ENST00000476176.5:c.1250A>C	ENSP00000420433.1:p.His417Pro
ENST00000492597.5:c.1064A>C	ENSP00000419898.1:p.His355Pro
ENST00000495767.5:c.*972A>C	ENSP00000419658.1:n.*972A>C
ENST00000497830.5:c.*988A>C	ENSP00000420088.1:n.*988A>C
ENST00000497959.5:c.1263+1605A>C	ENSP00000420648.1:n.1263+1605A>C
ENST00000539926.5:c.941A>C	ENSP00000441253.2:p.His314Pro
ENST00000610757.4:c.941A>C	ENSP00000480435.1:p.His314Pro
ENST00000629669.2:c.1263+1605A>C	ENSP00000486824.1:n.1263+1605A>C
NM_001293273.1:c.1040A>C	NP_001280202.1:p.His347Pro
NM_020166.4:c.1391A>C	NP_064551.3:p.His464Pro
NR_120639.1:n.1305A>C
NR_120640.1:n.2044+1605A>C
XM_006713702.1:c.1064A>C	XP_006713765.1:p.His355Pro
XM_011512992.1:c.1277A>C	XP_011511294.1:p.His426Pro
XM_011512993.1:c.1377+1605A>C	XP_011511295.1:n.1377+1605A>C
XR_241502.2:n.1524+1605A>C
XR_924159.1:n.1538A>C
NM_001363880.1:c.1064A>C	NP_001350809.1:p.His355Pro
XM_011512992.2:c.1277A>C	XP_011511294.1:p.His426Pro
XR_001740207.2:n.1514A>C
XR_001740208.2:n.1514A>C
XR_001740209.2:n.1470+1605A>C
XR_001740210.1:n.1344A>C
XR_002959553.1:n.1514A>C
XR_002959554.1:n.1500+1605A>C
XR_241502.3:n.1470+1605A>C
NM_020166.5:c.1391A>C MANE Select	NP_064551.3:p.His464Pro
NM_001293273.2:c.1040A>C	NP_001280202.1:p.His347Pro
NR_120639.2:n.1214A>C
NR_120640.2:n.2044+1605A>C