Canonical Allele Identifier: CA10603743

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77027861G>A , CM000677.2:g.77027861G>A	GRCh38
NC_000015.9:g.77320202G>A , CM000677.1:g.77320202G>A	GRCh37
NC_000015.8:g.75107257G>A	NCBI36
NG_007526.1:g.37738G>A , LRG_172:g.37738G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003978.5:c.364G>A MANE Select	NP_003969.2:p.Val122Ile
ENST00000558012.6:c.364G>A MANE Select	ENSP00000452746.1:p.Val122Ile
NM_001321135.1:c.364G>A	NP_001308064.1:p.Val122Ile
NM_001321135.2:c.364G>A	NP_001308064.1:p.Val122Ile
NM_001321136.1:c.337G>A	NP_001308065.1:p.Val113Ile
NM_001321136.2:c.337G>A	NP_001308065.1:p.Val113Ile
NM_001321137.1:c.559G>A	NP_001308066.1:p.Val187Ile
NM_003978.3:c.364G>A , LRG_172t1:c.364G>A	NP_003969.2:p.Val122Ile
NM_003978.4:c.364G>A	NP_003969.2:p.Val122Ile
NR_135552.1:n.853G>A
NR_135552.2:n.812G>A
ENST00000379595.7:c.364G>A	ENSP00000368914.3:p.Val122Ile
ENST00000558012.5:c.364G>A	ENSP00000452746.1:p.Val122Ile
ENST00000559161.5:c.364G>A	ENSP00000453372.1:p.Val122Ile
ENST00000559295.5:c.364G>A	ENSP00000452743.1:p.Val122Ile
ENST00000559750.5:c.*5G>A	ENSP00000453531.1:n.*5G>A
ENST00000559785.5:c.559G>A	ENSP00000452986.1:p.Val187Ile
ENST00000559856.1:c.283G>A	ENSP00000453382.1:p.Val95Ile
ENST00000559859.5:c.337G>A	ENSP00000453218.1:p.Val113Ile
ENST00000560223.5:c.*466G>A	ENSP00000454118.1:n.*466G>A
ENST00000560377.5:n.605G>A
ENST00000560796.5:c.*62G>A	ENSP00000454127.1:n.*62G>A
ENST00000561315.5:n.137G>A
ENST00000697622.1:n.44G>A
ENST00000697623.1:n.764G>A
XM_006720737.2:c.-3G>A	XP_006720800.1:n.-3G>A
XM_006720737.3:c.-3G>A	XP_006720800.1:n.-3G>A
XM_011522163.1:c.421G>A	XP_011520465.1:p.Val141Ile
XM_011522163.2:c.421G>A	XP_011520465.1:p.Val141Ile
XM_011522164.1:c.319G>A	XP_011520466.1:p.Val107Ile
XM_011522165.1:c.217G>A	XP_011520467.1:p.Val73Ile
XM_011522165.2:c.217G>A	XP_011520467.1:p.Val73Ile
XM_011522166.1:c.421G>A	XP_011520468.1:p.Val141Ile
XM_011522166.2:c.421G>A	XP_011520468.1:p.Val141Ile
XM_011522167.1:c.421G>A	XP_011520469.1:p.Val141Ile
XM_011522167.2:c.421G>A	XP_011520469.1:p.Val141Ile
XM_011522168.1:c.421G>A	XP_011520470.1:p.Val141Ile
XM_011522168.3:c.421G>A	XP_011520470.1:p.Val141Ile
XM_011522169.1:c.421G>A	XP_011520471.1:p.Val141Ile
XM_011522169.2:c.421G>A	XP_011520471.1:p.Val141Ile
XM_011522170.1:c.69G>A	XP_011520472.1:p.Pro23=
XM_011522171.1:c.9G>A	XP_011520473.1:p.Pro3=
XM_011522172.1:c.9G>A	XP_011520474.1:p.Pro3=
XM_011522173.1:c.9G>A	XP_011520475.1:p.Pro3=
XR_931936.1:n.871G>A
XR_931936.2:n.869G>A
XR_931937.1:n.814G>A
XR_931937.2:n.812G>A
XR_931938.1:n.871G>A
XR_931938.2:n.869G>A
XR_931939.1:n.871G>A
XR_931939.2:n.869G>A
XR_931940.1:n.871G>A