Canonical Allele Identifier: CA7676053

Gene: PSTPIP1

Linked Data

• ClinVar Variation Id: 811969
• ClinVar RCV Id: RCV001002500
• dbSNP Id: rs763986763
• ExAC: 15:77325228 C / T
• gnomAD v2: 15-77325228-C-T
• gnomAD v3: 15-77032887-C-T
• gnomAD v4: 15-77032887-C-T
• MyVariant Identifiers: chr15:g.77325228C>T (hg19) ; chr15:g.77032887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032887C>T , CM000677.2:g.77032887C>T	GRCh38
NC_000015.9:g.77325228C>T , CM000677.1:g.77325228C>T	GRCh37
NC_000015.8:g.75112283C>T	NCBI36
NG_007526.1:g.42764C>T , LRG_172:g.42764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2030C>T
ENST00000697623.1:n.2283C>T
ENST00000558012.6:c.864C>T MANE Select	ENSP00000452746.1:p.Tyr288=
ENST00000379595.7:c.864C>T	ENSP00000368914.3:p.Tyr288=
ENST00000557995.1:n.528C>T
ENST00000558012.5:c.864C>T	ENSP00000452746.1:p.Tyr288=
ENST00000558870.1:c.78+493C>T
ENST00000559295.5:c.872+459C>T	ENSP00000452743.1:n.872+459C>T
ENST00000559785.5:c.1093C>T	ENSP00000452986.1:p.Arg365Ter
ENST00000560223.5:c.*966C>T	ENSP00000454118.1:n.*966C>T
NM_003978.3:c.864C>T , LRG_172t1:c.864C>T	NP_003969.2:p.Tyr288=
XM_006720737.2:c.498C>T	XP_006720800.1:p.Tyr166=
XM_011522163.1:c.921C>T	XP_011520465.1:p.Tyr307=
XM_011522164.1:c.819C>T	XP_011520466.1:p.Tyr273=
XM_011522165.1:c.717C>T	XP_011520467.1:p.Tyr239=
XM_011522166.1:c.955C>T	XP_011520468.1:p.Arg319Ter
XM_011522167.1:c.895+493C>T	XP_011520469.1:n.895+493C>T
XM_011522168.1:c.921C>T	XP_011520470.1:p.Tyr307=
XM_011522169.1:c.798+1609C>T	XP_011520471.1:n.798+1609C>T
XM_011522170.1:c.372-2621C>T	XP_011520472.1:n.372-2621C>T
XM_011522171.1:c.312-2621C>T	XP_011520473.1:n.312-2621C>T
XM_011522172.1:c.312-2621C>T	XP_011520474.1:n.312-2621C>T
XM_011522173.1:c.312-2621C>T	XP_011520475.1:n.312-2621C>T
XR_931936.1:n.1405C>T
XR_931937.1:n.1348C>T
XR_931938.1:n.1345+493C>T
XR_931939.1:n.1248+1609C>T
XR_931940.1:n.1070-2621C>T
NM_001321135.1:c.872+459C>T	NP_001308064.1:n.872+459C>T
NM_001321136.1:c.837C>T	NP_001308065.1:p.Tyr279=
NM_001321137.1:c.1059C>T	NP_001308066.1:p.Tyr353=
NM_003978.4:c.864C>T	NP_003969.2:p.Tyr288=
NR_135552.1:n.1150+1609C>T
XM_006720737.3:c.498C>T	XP_006720800.1:p.Tyr166=
XM_011522163.2:c.921C>T	XP_011520465.1:p.Tyr307=
XM_011522165.2:c.717C>T	XP_011520467.1:p.Tyr239=
XM_011522166.2:c.955C>T	XP_011520468.1:p.Arg319Ter
XM_011522167.2:c.895+493C>T	XP_011520469.1:n.895+493C>T
XM_011522168.3:c.921C>T	XP_011520470.1:p.Tyr307=
XM_011522169.2:c.798+1609C>T	XP_011520471.1:n.798+1609C>T
XR_931936.2:n.1403C>T
XR_931937.2:n.1346C>T
XR_931938.2:n.1343+493C>T
XR_931939.2:n.1246+1609C>T
NM_001321135.2:c.872+459C>T	NP_001308064.1:n.872+459C>T
NM_001321136.2:c.837C>T	NP_001308065.1:p.Tyr279=
NM_003978.5:c.864C>T MANE Select	NP_003969.2:p.Tyr288=
NR_135552.2:n.1109+1609C>T