Canonical Allele Identifier: CA393521985

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77329418C>A (hg19) ; chr15:g.77037077C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037077C>A , CM000677.2:g.77037077C>A	GRCh38
NC_000015.9:g.77329418C>A , CM000677.1:g.77329418C>A	GRCh37
NC_000015.8:g.75116473C>A	NCBI36
NG_007526.1:g.46954C>A , LRG_172:g.46954C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2318C>A
ENST00000697623.1:n.2571C>A
ENST00000558012.6:c.1152C>A MANE Select	ENSP00000452746.1:p.Asp384Glu
ENST00000379595.7:c.1143C>A	ENSP00000368914.3:p.Asp381Glu
ENST00000557995.1:n.816C>A
ENST00000558012.5:c.1152C>A	ENSP00000452746.1:p.Asp384Glu
ENST00000558870.1:c.301C>A
ENST00000559295.5:c.1095C>A	ENSP00000452743.1:p.Asp365Glu
ENST00000559785.5:c.*127C>A	ENSP00000452986.1:n.*127C>A
ENST00000560064.1:n.275C>A
ENST00000560223.5:c.*1254C>A	ENSP00000454118.1:n.*1254C>A
NM_003978.3:c.1152C>A , LRG_172t1:c.1152C>A	NP_003969.2:p.Asp384Glu
XM_006720737.2:c.786C>A	XP_006720800.1:p.Asp262Glu
XM_011522163.1:c.1200C>A	XP_011520465.1:p.Asp400Glu
XM_011522164.1:c.1107C>A	XP_011520466.1:p.Asp369Glu
XM_011522165.1:c.1005C>A	XP_011520467.1:p.Asp335Glu
XM_011522168.1:c.1209C>A	XP_011520470.1:p.Asp403Glu
XM_011522170.1:c.594C>A	XP_011520472.1:p.Asp198Glu
XM_011522171.1:c.534C>A	XP_011520473.1:p.Asp178Glu
XM_011522172.1:c.534C>A	XP_011520474.1:p.Asp178Glu
XM_011522173.1:c.534C>A	XP_011520475.1:p.Asp178Glu
XR_931936.1:n.1693C>A
XR_931937.1:n.1636C>A
XR_931938.1:n.1568C>A
XR_931939.1:n.1471C>A
XR_931940.1:n.1292C>A
NM_001321135.1:c.1095C>A	NP_001308064.1:p.Asp365Glu
NM_001321136.1:c.1125C>A	NP_001308065.1:p.Asp375Glu
NM_001321137.1:c.1347C>A	NP_001308066.1:p.Asp449Glu
NM_003978.4:c.1152C>A	NP_003969.2:p.Asp384Glu
NR_135552.1:n.1373C>A
XM_006720737.3:c.786C>A	XP_006720800.1:p.Asp262Glu
XM_011522163.2:c.1200C>A	XP_011520465.1:p.Asp400Glu
XM_011522165.2:c.1005C>A	XP_011520467.1:p.Asp335Glu
XM_011522168.3:c.1209C>A	XP_011520470.1:p.Asp403Glu
XR_931936.2:n.1691C>A
XR_931937.2:n.1634C>A
XR_931938.2:n.1566C>A
XR_931939.2:n.1469C>A
NM_001321135.2:c.1095C>A	NP_001308064.1:p.Asp365Glu
NM_001321136.2:c.1125C>A	NP_001308065.1:p.Asp375Glu
NM_003978.5:c.1152C>A MANE Select	NP_003969.2:p.Asp384Glu
NR_135552.2:n.1332C>A