Canonical Allele Identifier: CA393521405

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77325247C>A (hg19) ; chr15:g.77032906C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032906C>A , CM000677.2:g.77032906C>A	GRCh38
NC_000015.9:g.77325247C>A , CM000677.1:g.77325247C>A	GRCh37
NC_000015.8:g.75112302C>A	NCBI36
NG_007526.1:g.42783C>A , LRG_172:g.42783C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2049C>A
ENST00000697623.1:n.2302C>A
ENST00000558012.6:c.883C>A MANE Select	ENSP00000452746.1:p.Leu295Met
ENST00000379595.7:c.883C>A	ENSP00000368914.3:p.Leu295Met
ENST00000557995.1:n.547C>A
ENST00000558012.5:c.883C>A	ENSP00000452746.1:p.Leu295Met
ENST00000558870.1:c.78+512C>A
ENST00000559295.5:c.872+478C>A	ENSP00000452743.1:n.872+478C>A
ENST00000559785.5:c.1112C>A	ENSP00000452986.1:p.Ala371Asp
ENST00000560223.5:c.*985C>A	ENSP00000454118.1:n.*985C>A
NM_003978.3:c.883C>A , LRG_172t1:c.883C>A	NP_003969.2:p.Leu295Met
XM_006720737.2:c.517C>A	XP_006720800.1:p.Leu173Met
XM_011522163.1:c.940C>A	XP_011520465.1:p.Leu314Met
XM_011522164.1:c.838C>A	XP_011520466.1:p.Leu280Met
XM_011522165.1:c.736C>A	XP_011520467.1:p.Leu246Met
XM_011522166.1:c.974C>A	XP_011520468.1:p.Ala325Asp
XM_011522167.1:c.895+512C>A	XP_011520469.1:n.895+512C>A
XM_011522168.1:c.940C>A	XP_011520470.1:p.Leu314Met
XM_011522169.1:c.798+1628C>A	XP_011520471.1:n.798+1628C>A
XM_011522170.1:c.372-2602C>A	XP_011520472.1:n.372-2602C>A
XM_011522171.1:c.312-2602C>A	XP_011520473.1:n.312-2602C>A
XM_011522172.1:c.312-2602C>A	XP_011520474.1:n.312-2602C>A
XM_011522173.1:c.312-2602C>A	XP_011520475.1:n.312-2602C>A
XR_931936.1:n.1424C>A
XR_931937.1:n.1367C>A
XR_931938.1:n.1345+512C>A
XR_931939.1:n.1248+1628C>A
XR_931940.1:n.1070-2602C>A
NM_001321135.1:c.872+478C>A	NP_001308064.1:n.872+478C>A
NM_001321136.1:c.856C>A	NP_001308065.1:p.Leu286Met
NM_001321137.1:c.1078C>A	NP_001308066.1:p.Leu360Met
NM_003978.4:c.883C>A	NP_003969.2:p.Leu295Met
NR_135552.1:n.1150+1628C>A
XM_006720737.3:c.517C>A	XP_006720800.1:p.Leu173Met
XM_011522163.2:c.940C>A	XP_011520465.1:p.Leu314Met
XM_011522165.2:c.736C>A	XP_011520467.1:p.Leu246Met
XM_011522166.2:c.974C>A	XP_011520468.1:p.Ala325Asp
XM_011522167.2:c.895+512C>A	XP_011520469.1:n.895+512C>A
XM_011522168.3:c.940C>A	XP_011520470.1:p.Leu314Met
XM_011522169.2:c.798+1628C>A	XP_011520471.1:n.798+1628C>A
XR_931936.2:n.1422C>A
XR_931937.2:n.1365C>A
XR_931938.2:n.1343+512C>A
XR_931939.2:n.1246+1628C>A
NM_001321135.2:c.872+478C>A	NP_001308064.1:n.872+478C>A
NM_001321136.2:c.856C>A	NP_001308065.1:p.Leu286Met
NM_003978.5:c.883C>A MANE Select	NP_003969.2:p.Leu295Met
NR_135552.2:n.1109+1628C>A