Canonical Allele Identifier: CA13375127

Gene: PLEKHA7

Linked Data

• dbSNP Id: rs11024097
• gnomAD v2: 11-16999029-C-T
• gnomAD v3: 11-16977482-C-T
• gnomAD v4: 11-16977482-C-T
• MyVariant Identifiers: chr11:g.16999029C>T (hg19) ; chr11:g.16977482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.16977482C>T , CM000673.2:g.16977482C>T	GRCh38
NC_000011.9:g.16999029C>T , CM000673.1:g.16999029C>T	GRCh37
NC_000011.8:g.16955605C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000698836.1:c.221+36507G>A	ENSP00000513972.1:n.221+36507G>A
ENST00000531066.6:c.221+36507G>A MANE Select	ENSP00000435389.1:n.221+36507G>A
ENST00000355661.7:c.221+36507G>A	ENSP00000347883.2:n.221+36507G>A
ENST00000529213.1:n.265+35596G>A
ENST00000531066.5:c.221+36507G>A	ENSP00000435389.1:n.221+36507G>A
ENST00000532079.1:c.81+36661G>A	ENSP00000434812.1:n.81+36661G>A
NM_175058.4:c.221+36507G>A	NP_778228.3:n.221+36507G>A
XM_006718149.2:c.221+36507G>A	XP_006718212.1:n.221+36507G>A
XM_011519912.1:c.17+34814G>A	XP_011518214.1:n.17+34814G>A
XM_011519913.1:c.167+35760G>A	XP_011518215.1:n.167+35760G>A
XM_011519914.1:c.221+36507G>A	XP_011518216.1:n.221+36507G>A
XM_011519916.1:c.167+35760G>A	XP_011518218.1:n.167+35760G>A
NM_001329630.1:c.221+36507G>A	NP_001316559.1:n.221+36507G>A
NM_001329631.1:c.221+36507G>A	NP_001316560.1:n.221+36507G>A
XM_017017241.2:c.221+36507G>A	XP_016872730.1:n.221+36507G>A
XM_017017242.2:c.221+36507G>A	XP_016872731.1:n.221+36507G>A
XM_024448356.1:c.221+36507G>A	XP_024304124.1:n.221+36507G>A
XM_024448357.1:c.221+36507G>A	XP_024304125.1:n.221+36507G>A
XM_024448358.1:c.221+36507G>A	XP_024304126.1:n.221+36507G>A
XM_024448359.1:c.221+36507G>A	XP_024304127.1:n.221+36507G>A
XM_024448360.1:c.221+36507G>A	XP_024304128.1:n.221+36507G>A
XM_024448363.1:c.221+36507G>A	XP_024304131.1:n.221+36507G>A
XM_024448364.1:c.221+36507G>A	XP_024304132.1:n.221+36507G>A
XM_024448370.1:c.221+36507G>A	XP_024304138.1:n.221+36507G>A
XR_002957126.1:n.243+36507G>A
NM_001329630.2:c.221+36507G>A MANE Select	NP_001316559.1:n.221+36507G>A
NM_001329631.2:c.221+36507G>A	NP_001316560.1:n.221+36507G>A
NM_175058.5:c.221+36507G>A	NP_778228.3:n.221+36507G>A