Canonical Allele Identifier: CA2718813

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 1210430
• ClinVar RCV Id: RCV001580733
• dbSNP Id: rs398124352
• ExAC: 3:182756876 C / A
• gnomAD v2: 3-182756876-C-A
• gnomAD v3: 3-183039088-C-A
• gnomAD v4: 3-183039088-C-A
• MyVariant Identifiers: chr3:g.182756876C>A (hg19) ; chr3:g.183039088C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039088C>A , CM000665.2:g.183039088C>A	GRCh38
NC_000003.11:g.182756876C>A , CM000665.1:g.182756876C>A	GRCh37
NC_000003.10:g.184239570C>A	NCBI36
NG_008100.1:g.65490G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1315G>T MANE Select	ENSP00000265594.4:p.Val439Leu
ENST00000265594.8:c.1315G>T	ENSP00000265594.4:p.Val439Leu
ENST00000476176.5:c.1174G>T	ENSP00000420433.1:p.Val392Leu
ENST00000492597.5:c.988G>T	ENSP00000419898.1:p.Val330Leu
ENST00000495767.5:c.*896G>T	ENSP00000419658.1:n.*896G>T
ENST00000497830.5:c.*912G>T	ENSP00000420088.1:n.*912G>T
ENST00000497959.5:c.1201G>T	ENSP00000420648.1:p.Val401Leu
ENST00000539926.5:c.865G>T	ENSP00000441253.2:p.Val289Leu
ENST00000610757.4:c.865G>T	ENSP00000480435.1:p.Val289Leu
ENST00000629669.2:c.1201G>T	ENSP00000486824.1:p.Val401Leu
NM_001293273.1:c.964G>T	NP_001280202.1:p.Val322Leu
NM_020166.4:c.1315G>T	NP_064551.3:p.Val439Leu
NR_120639.1:n.1229G>T
NR_120640.1:n.1982G>T
XM_006713702.1:c.988G>T	XP_006713765.1:p.Val330Leu
XM_011512992.1:c.1201G>T	XP_011511294.1:p.Val401Leu
XM_011512993.1:c.1315G>T	XP_011511295.1:p.Val439Leu
XR_241502.2:n.1462G>T
XR_924159.1:n.1462G>T
NM_001363880.1:c.988G>T	NP_001350809.1:p.Val330Leu
XM_011512992.2:c.1201G>T	XP_011511294.1:p.Val401Leu
XR_001740207.2:n.1438G>T
XR_001740208.2:n.1438G>T
XR_001740209.2:n.1408G>T
XR_001740210.1:n.1268G>T
XR_002959553.1:n.1438G>T
XR_002959554.1:n.1438G>T
XR_241502.3:n.1408G>T
NM_020166.5:c.1315G>T MANE Select	NP_064551.3:p.Val439Leu
NM_001293273.2:c.964G>T	NP_001280202.1:p.Val322Leu
NR_120639.2:n.1138G>T
NR_120640.2:n.1982G>T