Canonical Allele Identifier: CA660141216

Gene: PLEKHS1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113755361G>T , CM000672.2:g.113755361G>T	GRCh38
NC_000010.10:g.115515120G>T , CM000672.1:g.115515120G>T	GRCh37
NC_000010.9:g.115505110G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000694986.1:c.28+56G>T MANE Select	ENSP00000511629.1:n.28+56G>T
ENST00000361048.6:c.28+56G>T	ENSP00000354332.1:n.28+56G>T
ENST00000369312.9:c.-281G>T	ENSP00000358318.4:n.-281G>T
ENST00000619563.5:c.-85G>T	ENSP00000483759.1:n.-85G>T
ENST00000650852.1:c.28+56G>T	ENSP00000499050.1:n.28+56G>T
ENST00000652564.1:c.-237+3600G>T	ENSP00000498368.1:n.-237+3600G>T
ENST00000361048.5:c.28+56G>T	ENSP00000354332.1:n.28+56G>T
ENST00000369312.8:c.-281G>T	ENSP00000358318.4:n.-281G>T
ENST00000619563.4:c.-85G>T	ENSP00000483759.1:n.-85G>T
NM_001193434.1:c.-281G>T	NP_001180363.1:n.-281G>T
NM_001193435.1:c.-85G>T	NP_001180364.1:n.-85G>T
NM_024889.4:c.28+56G>T	NP_079165.3:n.28+56G>T
XM_005270162.2:c.28+56G>T	XP_005270219.1:n.28+56G>T
XM_005270163.2:c.28+56G>T	XP_005270220.1:n.28+56G>T
XM_011540171.1:c.28+56G>T	XP_011538473.1:n.28+56G>T
XM_011540172.1:c.28+56G>T	XP_011538474.1:n.28+56G>T
XM_011540173.1:c.28+56G>T	XP_011538475.1:n.28+56G>T
XM_011540174.1:c.28+56G>T	XP_011538476.1:n.28+56G>T
XM_011540175.1:c.-281G>T	XP_011538477.1:n.-281G>T
XM_011540176.1:c.-85G>T	XP_011538478.1:n.-85G>T
XR_945813.1:n.494+56G>T
XR_945814.1:n.494+56G>T
XM_011540174.2:c.28+56G>T	XP_011538476.1:n.28+56G>T
XM_017016666.1:c.28+56G>T	XP_016872155.1:n.28+56G>T
NM_001193434.2:c.-281G>T	NP_001180363.1:n.-281G>T
NM_001193435.2:c.-85G>T	NP_001180364.1:n.-85G>T
NM_024889.5:c.28+56G>T	NP_079165.3:n.28+56G>T
NM_001395068.1:c.28+56G>T MANE Select	NP_001381997.1:n.28+56G>T