Canonical Allele Identifier: CA393521428

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032916-G-T
• MyVariant Identifiers: chr15:g.77325257G>T (hg19) ; chr15:g.77032916G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032916G>T , CM000677.2:g.77032916G>T	GRCh38
NC_000015.9:g.77325257G>T , CM000677.1:g.77325257G>T	GRCh37
NC_000015.8:g.75112312G>T	NCBI36
NG_007526.1:g.42793G>T , LRG_172:g.42793G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2059G>T
ENST00000697623.1:n.2312G>T
ENST00000558012.6:c.893G>T MANE Select	ENSP00000452746.1:p.Ser298Ile
ENST00000379595.7:c.893G>T	ENSP00000368914.3:p.Ser298Ile
ENST00000557995.1:n.557G>T
ENST00000558012.5:c.893G>T	ENSP00000452746.1:p.Ser298Ile
ENST00000558870.1:c.78+522G>T
ENST00000559295.5:c.872+488G>T	ENSP00000452743.1:n.872+488G>T
ENST00000559785.5:c.1122G>T	ENSP00000452986.1:p.Gln374His
ENST00000560223.5:c.*995G>T	ENSP00000454118.1:n.*995G>T
NM_003978.3:c.893G>T , LRG_172t1:c.893G>T	NP_003969.2:p.Ser298Ile
XM_006720737.2:c.527G>T	XP_006720800.1:p.Ser176Ile
XM_011522163.1:c.950G>T	XP_011520465.1:p.Ser317Ile
XM_011522164.1:c.848G>T	XP_011520466.1:p.Ser283Ile
XM_011522165.1:c.746G>T	XP_011520467.1:p.Ser249Ile
XM_011522166.1:c.984G>T	XP_011520468.1:p.Gln328His
XM_011522167.1:c.895+522G>T	XP_011520469.1:n.895+522G>T
XM_011522168.1:c.950G>T	XP_011520470.1:p.Ser317Ile
XM_011522169.1:c.798+1638G>T	XP_011520471.1:n.798+1638G>T
XM_011522170.1:c.372-2592G>T	XP_011520472.1:n.372-2592G>T
XM_011522171.1:c.312-2592G>T	XP_011520473.1:n.312-2592G>T
XM_011522172.1:c.312-2592G>T	XP_011520474.1:n.312-2592G>T
XM_011522173.1:c.312-2592G>T	XP_011520475.1:n.312-2592G>T
XR_931936.1:n.1434G>T
XR_931937.1:n.1377G>T
XR_931938.1:n.1345+522G>T
XR_931939.1:n.1248+1638G>T
XR_931940.1:n.1070-2592G>T
NM_001321135.1:c.872+488G>T	NP_001308064.1:n.872+488G>T
NM_001321136.1:c.866G>T	NP_001308065.1:p.Ser289Ile
NM_001321137.1:c.1088G>T	NP_001308066.1:p.Ser363Ile
NM_003978.4:c.893G>T	NP_003969.2:p.Ser298Ile
NR_135552.1:n.1150+1638G>T
XM_006720737.3:c.527G>T	XP_006720800.1:p.Ser176Ile
XM_011522163.2:c.950G>T	XP_011520465.1:p.Ser317Ile
XM_011522165.2:c.746G>T	XP_011520467.1:p.Ser249Ile
XM_011522166.2:c.984G>T	XP_011520468.1:p.Gln328His
XM_011522167.2:c.895+522G>T	XP_011520469.1:n.895+522G>T
XM_011522168.3:c.950G>T	XP_011520470.1:p.Ser317Ile
XM_011522169.2:c.798+1638G>T	XP_011520471.1:n.798+1638G>T
XR_931936.2:n.1432G>T
XR_931937.2:n.1375G>T
XR_931938.2:n.1343+522G>T
XR_931939.2:n.1246+1638G>T
NM_001321135.2:c.872+488G>T	NP_001308064.1:n.872+488G>T
NM_001321136.2:c.866G>T	NP_001308065.1:p.Ser289Ile
NM_003978.5:c.893G>T MANE Select	NP_003969.2:p.Ser298Ile
NR_135552.2:n.1109+1638G>T