Canonical Allele Identifier: CA393521053

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77324645G>T (hg19) ; chr15:g.77032304G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032304G>T , CM000677.2:g.77032304G>T	GRCh38
NC_000015.9:g.77324645G>T , CM000677.1:g.77324645G>T	GRCh37
NC_000015.8:g.75111700G>T	NCBI36
NG_007526.1:g.42181G>T , LRG_172:g.42181G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1447G>T
ENST00000697623.1:n.2167G>T
ENST00000558012.6:c.748G>T MANE Select	ENSP00000452746.1:p.Glu250Ter
ENST00000379595.7:c.748G>T	ENSP00000368914.3:p.Glu250Ter
ENST00000557995.1:n.412G>T
ENST00000558012.5:c.748G>T	ENSP00000452746.1:p.Glu250Ter
ENST00000559295.5:c.748G>T	ENSP00000452743.1:p.Glu250Ter
ENST00000559785.5:c.943G>T	ENSP00000452986.1:p.Glu315Ter
ENST00000559856.1:c.667G>T	ENSP00000453382.1:p.Glu223Ter
ENST00000560223.5:c.*850G>T	ENSP00000454118.1:n.*850G>T
ENST00000560377.5:n.989G>T
NM_003978.3:c.748G>T , LRG_172t1:c.748G>T	NP_003969.2:p.Glu250Ter
XM_006720737.2:c.382G>T	XP_006720800.1:p.Glu128Ter
XM_011522163.1:c.805G>T	XP_011520465.1:p.Glu269Ter
XM_011522164.1:c.703G>T	XP_011520466.1:p.Glu235Ter
XM_011522165.1:c.601G>T	XP_011520467.1:p.Glu201Ter
XM_011522166.1:c.805G>T	XP_011520468.1:p.Glu269Ter
XM_011522167.1:c.805G>T	XP_011520469.1:p.Glu269Ter
XM_011522168.1:c.805G>T	XP_011520470.1:p.Glu269Ter
XM_011522169.1:c.798+1026G>T	XP_011520471.1:n.798+1026G>T
XM_011522170.1:c.371+2730G>T	XP_011520472.1:n.371+2730G>T
XM_011522171.1:c.311+2730G>T	XP_011520473.1:n.311+2730G>T
XM_011522172.1:c.311+2730G>T	XP_011520474.1:n.311+2730G>T
XM_011522173.1:c.311+2730G>T	XP_011520475.1:n.311+2730G>T
XR_931936.1:n.1255G>T
XR_931937.1:n.1198G>T
XR_931938.1:n.1255G>T
XR_931939.1:n.1248+1026G>T
XR_931940.1:n.1069+2730G>T
NM_001321135.1:c.748G>T	NP_001308064.1:p.Glu250Ter
NM_001321136.1:c.721G>T	NP_001308065.1:p.Glu241Ter
NM_001321137.1:c.943G>T	NP_001308066.1:p.Glu315Ter
NM_003978.4:c.748G>T	NP_003969.2:p.Glu250Ter
NR_135552.1:n.1150+1026G>T
XM_006720737.3:c.382G>T	XP_006720800.1:p.Glu128Ter
XM_011522163.2:c.805G>T	XP_011520465.1:p.Glu269Ter
XM_011522165.2:c.601G>T	XP_011520467.1:p.Glu201Ter
XM_011522166.2:c.805G>T	XP_011520468.1:p.Glu269Ter
XM_011522167.2:c.805G>T	XP_011520469.1:p.Glu269Ter
XM_011522168.3:c.805G>T	XP_011520470.1:p.Glu269Ter
XM_011522169.2:c.798+1026G>T	XP_011520471.1:n.798+1026G>T
XR_931936.2:n.1253G>T
XR_931937.2:n.1196G>T
XR_931938.2:n.1253G>T
XR_931939.2:n.1246+1026G>T
NM_001321135.2:c.748G>T	NP_001308064.1:p.Glu250Ter
NM_001321136.2:c.721G>T	NP_001308065.1:p.Glu241Ter
NM_003978.5:c.748G>T MANE Select	NP_003969.2:p.Glu250Ter
NR_135552.2:n.1109+1026G>T