Canonical Allele Identifier: CA393521056

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77324646A>G (hg19) ; chr15:g.77032305A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032305A>G , CM000677.2:g.77032305A>G	GRCh38
NC_000015.9:g.77324646A>G , CM000677.1:g.77324646A>G	GRCh37
NC_000015.8:g.75111701A>G	NCBI36
NG_007526.1:g.42182A>G , LRG_172:g.42182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1448A>G
ENST00000697623.1:n.2168A>G
ENST00000558012.6:c.749A>G MANE Select	ENSP00000452746.1:p.Glu250Gly
ENST00000379595.7:c.749A>G	ENSP00000368914.3:p.Glu250Gly
ENST00000557995.1:n.413A>G
ENST00000558012.5:c.749A>G	ENSP00000452746.1:p.Glu250Gly
ENST00000559295.5:c.749A>G	ENSP00000452743.1:p.Glu250Gly
ENST00000559785.5:c.944A>G	ENSP00000452986.1:p.Glu315Gly
ENST00000559856.1:c.668A>G	ENSP00000453382.1:p.Glu223Gly
ENST00000560223.5:c.*851A>G	ENSP00000454118.1:n.*851A>G
ENST00000560377.5:n.990A>G
NM_003978.3:c.749A>G , LRG_172t1:c.749A>G	NP_003969.2:p.Glu250Gly
XM_006720737.2:c.383A>G	XP_006720800.1:p.Glu128Gly
XM_011522163.1:c.806A>G	XP_011520465.1:p.Glu269Gly
XM_011522164.1:c.704A>G	XP_011520466.1:p.Glu235Gly
XM_011522165.1:c.602A>G	XP_011520467.1:p.Glu201Gly
XM_011522166.1:c.806A>G	XP_011520468.1:p.Glu269Gly
XM_011522167.1:c.806A>G	XP_011520469.1:p.Glu269Gly
XM_011522168.1:c.806A>G	XP_011520470.1:p.Glu269Gly
XM_011522169.1:c.798+1027A>G	XP_011520471.1:n.798+1027A>G
XM_011522170.1:c.371+2731A>G	XP_011520472.1:n.371+2731A>G
XM_011522171.1:c.311+2731A>G	XP_011520473.1:n.311+2731A>G
XM_011522172.1:c.311+2731A>G	XP_011520474.1:n.311+2731A>G
XM_011522173.1:c.311+2731A>G	XP_011520475.1:n.311+2731A>G
XR_931936.1:n.1256A>G
XR_931937.1:n.1199A>G
XR_931938.1:n.1256A>G
XR_931939.1:n.1248+1027A>G
XR_931940.1:n.1069+2731A>G
NM_001321135.1:c.749A>G	NP_001308064.1:p.Glu250Gly
NM_001321136.1:c.722A>G	NP_001308065.1:p.Glu241Gly
NM_001321137.1:c.944A>G	NP_001308066.1:p.Glu315Gly
NM_003978.4:c.749A>G	NP_003969.2:p.Glu250Gly
NR_135552.1:n.1150+1027A>G
XM_006720737.3:c.383A>G	XP_006720800.1:p.Glu128Gly
XM_011522163.2:c.806A>G	XP_011520465.1:p.Glu269Gly
XM_011522165.2:c.602A>G	XP_011520467.1:p.Glu201Gly
XM_011522166.2:c.806A>G	XP_011520468.1:p.Glu269Gly
XM_011522167.2:c.806A>G	XP_011520469.1:p.Glu269Gly
XM_011522168.3:c.806A>G	XP_011520470.1:p.Glu269Gly
XM_011522169.2:c.798+1027A>G	XP_011520471.1:n.798+1027A>G
XR_931936.2:n.1254A>G
XR_931937.2:n.1197A>G
XR_931938.2:n.1254A>G
XR_931939.2:n.1246+1027A>G
NM_001321135.2:c.749A>G	NP_001308064.1:p.Glu250Gly
NM_001321136.2:c.722A>G	NP_001308065.1:p.Glu241Gly
NM_003978.5:c.749A>G MANE Select	NP_003969.2:p.Glu250Gly
NR_135552.2:n.1109+1027A>G