Canonical Allele Identifier: CA3391587

Gene: MEGF10

Linked Data

• dbSNP Id: rs376778102
• ExAC: 5:126755769 C / T
• gnomAD v2: 5-126755769-C-T
• MyVariant Identifiers: chr5:g.126755769C>T (hg19) ; chr5:g.127420077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127420077C>T , CM000667.2:g.127420077C>T	GRCh38
NC_000005.9:g.126755769C>T , CM000667.1:g.126755769C>T	GRCh37
NC_000005.8:g.126783668C>T	NCBI36
NG_032072.1:g.134314C>T
NG_032072.2:g.134314C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000503335.7:c.1460C>T MANE Select	ENSP00000423354.2:p.Pro487Leu
ENST00000274473.6:c.1460C>T	ENSP00000274473.6:p.Pro487Leu
ENST00000418761.6:c.1460C>T	ENSP00000416284.2:p.Pro487Leu
ENST00000503335.6:c.1460C>T	ENSP00000423354.2:p.Pro487Leu
ENST00000508365.5:c.1460C>T	ENSP00000423195.1:p.Pro487Leu
NM_001256545.1:c.1460C>T	NP_001243474.1:p.Pro487Leu
NM_001308119.1:c.1460C>T	NP_001295048.1:p.Pro487Leu
NM_001308121.1:c.1460C>T	NP_001295050.1:p.Pro487Leu
NM_032446.2:c.1460C>T	NP_115822.1:p.Pro487Leu
XM_011543692.1:c.1460C>T	XP_011541994.1:p.Pro487Leu
XM_011543693.1:c.1460C>T	XP_011541995.1:p.Pro487Leu
XM_011543694.1:c.1460C>T	XP_011541996.1:p.Pro487Leu
XM_017009987.1:c.1625C>T	XP_016865476.1:p.Pro542Leu
XM_017009988.1:c.320C>T	XP_016865477.1:p.Pro107Leu
NM_001256545.2:c.1460C>T MANE Select	NP_001243474.1:p.Pro487Leu
NM_032446.3:c.1460C>T	NP_115822.1:p.Pro487Leu
NM_001308119.2:c.1460C>T	NP_001295048.1:p.Pro487Leu
NM_001308121.2:c.1460C>T	NP_001295050.1:p.Pro487Leu