Canonical Allele Identifier: CA393522000

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs2076597001
• gnomAD v4: 15-77037084-G-T
• MyVariant Identifiers: chr15:g.77329425G>T (hg19) ; chr15:g.77037084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037084G>T , CM000677.2:g.77037084G>T	GRCh38
NC_000015.9:g.77329425G>T , CM000677.1:g.77329425G>T	GRCh37
NC_000015.8:g.75116480G>T	NCBI36
NG_007526.1:g.46961G>T , LRG_172:g.46961G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2325G>T
ENST00000697623.1:n.2578G>T
ENST00000558012.6:c.1159G>T MANE Select	ENSP00000452746.1:p.Glu387Ter
ENST00000379595.7:c.1150G>T	ENSP00000368914.3:p.Glu384Ter
ENST00000557995.1:n.823G>T
ENST00000558012.5:c.1159G>T	ENSP00000452746.1:p.Glu387Ter
ENST00000558870.1:c.308G>T
ENST00000559295.5:c.1102G>T	ENSP00000452743.1:p.Glu368Ter
ENST00000559785.5:c.*134G>T	ENSP00000452986.1:n.*134G>T
ENST00000560064.1:n.282G>T
ENST00000560223.5:c.*1261G>T	ENSP00000454118.1:n.*1261G>T
NM_003978.3:c.1159G>T , LRG_172t1:c.1159G>T	NP_003969.2:p.Glu387Ter
XM_006720737.2:c.793G>T	XP_006720800.1:p.Glu265Ter
XM_011522163.1:c.1207G>T	XP_011520465.1:p.Glu403Ter
XM_011522164.1:c.1114G>T	XP_011520466.1:p.Glu372Ter
XM_011522165.1:c.1012G>T	XP_011520467.1:p.Glu338Ter
XM_011522168.1:c.1216G>T	XP_011520470.1:p.Glu406Ter
XM_011522170.1:c.601G>T	XP_011520472.1:p.Glu201Ter
XM_011522171.1:c.541G>T	XP_011520473.1:p.Glu181Ter
XM_011522172.1:c.541G>T	XP_011520474.1:p.Glu181Ter
XM_011522173.1:c.541G>T	XP_011520475.1:p.Glu181Ter
XR_931936.1:n.1700G>T
XR_931937.1:n.1643G>T
XR_931938.1:n.1575G>T
XR_931939.1:n.1478G>T
XR_931940.1:n.1299G>T
NM_001321135.1:c.1102G>T	NP_001308064.1:p.Glu368Ter
NM_001321136.1:c.1132G>T	NP_001308065.1:p.Glu378Ter
NM_001321137.1:c.1354G>T	NP_001308066.1:p.Glu452Ter
NM_003978.4:c.1159G>T	NP_003969.2:p.Glu387Ter
NR_135552.1:n.1380G>T
XM_006720737.3:c.793G>T	XP_006720800.1:p.Glu265Ter
XM_011522163.2:c.1207G>T	XP_011520465.1:p.Glu403Ter
XM_011522165.2:c.1012G>T	XP_011520467.1:p.Glu338Ter
XM_011522168.3:c.1216G>T	XP_011520470.1:p.Glu406Ter
XR_931936.2:n.1698G>T
XR_931937.2:n.1641G>T
XR_931938.2:n.1573G>T
XR_931939.2:n.1476G>T
NM_001321135.2:c.1102G>T	NP_001308064.1:p.Glu368Ter
NM_001321136.2:c.1132G>T	NP_001308065.1:p.Glu378Ter
NM_003978.5:c.1159G>T MANE Select	NP_003969.2:p.Glu387Ter
NR_135552.2:n.1339G>T