Canonical Allele Identifier: CA273760773

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs370601019
• gnomAD v2: 15-77325284-T-C
• gnomAD v4: 15-77032943-T-C
• MyVariant Identifiers: chr15:g.77325284T>C (hg19) ; chr15:g.77032943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032943T>C , CM000677.2:g.77032943T>C	GRCh38
NC_000015.9:g.77325284T>C , CM000677.1:g.77325284T>C	GRCh37
NC_000015.8:g.75112339T>C	NCBI36
NG_007526.1:g.42820T>C , LRG_172:g.42820T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2086T>C
ENST00000697623.1:n.2339T>C
ENST00000558012.6:c.920T>C MANE Select	ENSP00000452746.1:p.Met307Thr
ENST00000379595.7:c.920T>C	ENSP00000368914.3:p.Met307Thr
ENST00000557995.1:n.584T>C
ENST00000558012.5:c.920T>C	ENSP00000452746.1:p.Met307Thr
ENST00000558870.1:c.78+549T>C
ENST00000559295.5:c.872+515T>C	ENSP00000452743.1:n.872+515T>C
ENST00000559785.5:c.1149T>C	ENSP00000452986.1:p.His383=
ENST00000560223.5:c.*1022T>C	ENSP00000454118.1:n.*1022T>C
NM_003978.3:c.920T>C , LRG_172t1:c.920T>C	NP_003969.2:p.Met307Thr
XM_006720737.2:c.554T>C	XP_006720800.1:p.Met185Thr
XM_011522163.1:c.977T>C	XP_011520465.1:p.Met326Thr
XM_011522164.1:c.875T>C	XP_011520466.1:p.Met292Thr
XM_011522165.1:c.773T>C	XP_011520467.1:p.Met258Thr
XM_011522166.1:c.1011T>C	XP_011520468.1:p.His337=
XM_011522167.1:c.895+549T>C	XP_011520469.1:n.895+549T>C
XM_011522168.1:c.977T>C	XP_011520470.1:p.Met326Thr
XM_011522169.1:c.798+1665T>C	XP_011520471.1:n.798+1665T>C
XM_011522170.1:c.372-2565T>C	XP_011520472.1:n.372-2565T>C
XM_011522171.1:c.312-2565T>C	XP_011520473.1:n.312-2565T>C
XM_011522172.1:c.312-2565T>C	XP_011520474.1:n.312-2565T>C
XM_011522173.1:c.312-2565T>C	XP_011520475.1:n.312-2565T>C
XR_931936.1:n.1461T>C
XR_931937.1:n.1404T>C
XR_931938.1:n.1345+549T>C
XR_931939.1:n.1248+1665T>C
XR_931940.1:n.1070-2565T>C
NM_001321135.1:c.872+515T>C	NP_001308064.1:n.872+515T>C
NM_001321136.1:c.893T>C	NP_001308065.1:p.Met298Thr
NM_001321137.1:c.1115T>C	NP_001308066.1:p.Met372Thr
NM_003978.4:c.920T>C	NP_003969.2:p.Met307Thr
NR_135552.1:n.1150+1665T>C
XM_006720737.3:c.554T>C	XP_006720800.1:p.Met185Thr
XM_011522163.2:c.977T>C	XP_011520465.1:p.Met326Thr
XM_011522165.2:c.773T>C	XP_011520467.1:p.Met258Thr
XM_011522166.2:c.1011T>C	XP_011520468.1:p.His337=
XM_011522167.2:c.895+549T>C	XP_011520469.1:n.895+549T>C
XM_011522168.3:c.977T>C	XP_011520470.1:p.Met326Thr
XM_011522169.2:c.798+1665T>C	XP_011520471.1:n.798+1665T>C
XR_931936.2:n.1459T>C
XR_931937.2:n.1402T>C
XR_931938.2:n.1343+549T>C
XR_931939.2:n.1246+1665T>C
NM_001321135.2:c.872+515T>C	NP_001308064.1:n.872+515T>C
NM_001321136.2:c.893T>C	NP_001308065.1:p.Met298Thr
NM_003978.5:c.920T>C MANE Select	NP_003969.2:p.Met307Thr
NR_135552.2:n.1109+1665T>C