Canonical Allele Identifier: CA129574

Gene: MEGF10

Linked Data

• ClinVar Variation Id: 30966
• ClinVar RCV Id: RCV000023957 ; RCV001385515
• dbSNP Id: rs387907073
• MyVariant Identifiers: chr5:g.126746139T>C (hg19) ; chr5:g.127410447T>C (hg38)
• PubMed: PMID:22371254

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127410447T>C , CM000667.2:g.127410447T>C	GRCh38
NC_000005.9:g.126746139T>C , CM000667.1:g.126746139T>C	GRCh37
NC_000005.8:g.126774038T>C	NCBI36
NG_032072.1:g.124684T>C
NG_032072.2:g.124684T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503335.7:c.976T>C MANE Select	ENSP00000423354.2:p.Cys326Arg
ENST00000274473.6:c.976T>C	ENSP00000274473.6:p.Cys326Arg
ENST00000418761.6:c.976T>C	ENSP00000416284.2:p.Cys326Arg
ENST00000503335.6:c.976T>C	ENSP00000423354.2:p.Cys326Arg
ENST00000508365.5:c.976T>C	ENSP00000423195.1:p.Cys326Arg
ENST00000515002.1:n.356T>C
NM_001256545.1:c.976T>C	NP_001243474.1:p.Cys326Arg
NM_001308119.1:c.976T>C	NP_001295048.1:p.Cys326Arg
NM_001308121.1:c.976T>C	NP_001295050.1:p.Cys326Arg
NM_032446.2:c.976T>C	NP_115822.1:p.Cys326Arg
XM_011543692.1:c.976T>C	XP_011541994.1:p.Cys326Arg
XM_011543693.1:c.976T>C	XP_011541995.1:p.Cys326Arg
XM_011543694.1:c.976T>C	XP_011541996.1:p.Cys326Arg
XM_017009987.1:c.1141T>C	XP_016865476.1:p.Cys381Arg
XM_017009988.1:c.-165T>C	XP_016865477.1:n.-165T>C
NM_001256545.2:c.976T>C MANE Select	NP_001243474.1:p.Cys326Arg
NM_032446.3:c.976T>C	NP_115822.1:p.Cys326Arg
NM_001308119.2:c.976T>C	NP_001295048.1:p.Cys326Arg
NM_001308121.2:c.976T>C	NP_001295050.1:p.Cys326Arg