Canonical Allele Identifier: CA7676051

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032870C>T , CM000677.2:g.77032870C>T	GRCh38
NC_000015.9:g.77325211C>T , CM000677.1:g.77325211C>T	GRCh37
NC_000015.8:g.75112266C>T	NCBI36
NG_007526.1:g.42747C>T , LRG_172:g.42747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2013C>T
ENST00000697623.1:n.2266C>T
ENST00000558012.6:c.847C>T MANE Select	ENSP00000452746.1:p.Pro283Ser
ENST00000379595.7:c.847C>T	ENSP00000368914.3:p.Pro283Ser
ENST00000557995.1:n.511C>T
ENST00000558012.5:c.847C>T	ENSP00000452746.1:p.Pro283Ser
ENST00000558870.1:c.78+476C>T
ENST00000559295.5:c.872+442C>T	ENSP00000452743.1:n.872+442C>T
ENST00000559785.5:c.1076C>T	ENSP00000452986.1:p.Ala359Val
ENST00000560223.5:c.*949C>T	ENSP00000454118.1:n.*949C>T
NM_003978.3:c.847C>T , LRG_172t1:c.847C>T	NP_003969.2:p.Pro283Ser
XM_006720737.2:c.481C>T	XP_006720800.1:p.Pro161Ser
XM_011522163.1:c.904C>T	XP_011520465.1:p.Pro302Ser
XM_011522164.1:c.802C>T	XP_011520466.1:p.Pro268Ser
XM_011522165.1:c.700C>T	XP_011520467.1:p.Pro234Ser
XM_011522166.1:c.938C>T	XP_011520468.1:p.Ala313Val
XM_011522167.1:c.895+476C>T	XP_011520469.1:n.895+476C>T
XM_011522168.1:c.904C>T	XP_011520470.1:p.Pro302Ser
XM_011522169.1:c.798+1592C>T	XP_011520471.1:n.798+1592C>T
XM_011522170.1:c.372-2638C>T	XP_011520472.1:n.372-2638C>T
XM_011522171.1:c.312-2638C>T	XP_011520473.1:n.312-2638C>T
XM_011522172.1:c.312-2638C>T	XP_011520474.1:n.312-2638C>T
XM_011522173.1:c.312-2638C>T	XP_011520475.1:n.312-2638C>T
XR_931936.1:n.1388C>T
XR_931937.1:n.1331C>T
XR_931938.1:n.1345+476C>T
XR_931939.1:n.1248+1592C>T
XR_931940.1:n.1070-2638C>T
NM_001321135.1:c.872+442C>T	NP_001308064.1:n.872+442C>T
NM_001321136.1:c.820C>T	NP_001308065.1:p.Pro274Ser
NM_001321137.1:c.1042C>T	NP_001308066.1:p.Pro348Ser
NM_003978.4:c.847C>T	NP_003969.2:p.Pro283Ser
NR_135552.1:n.1150+1592C>T
XM_006720737.3:c.481C>T	XP_006720800.1:p.Pro161Ser
XM_011522163.2:c.904C>T	XP_011520465.1:p.Pro302Ser
XM_011522165.2:c.700C>T	XP_011520467.1:p.Pro234Ser
XM_011522166.2:c.938C>T	XP_011520468.1:p.Ala313Val
XM_011522167.2:c.895+476C>T	XP_011520469.1:n.895+476C>T
XM_011522168.3:c.904C>T	XP_011520470.1:p.Pro302Ser
XM_011522169.2:c.798+1592C>T	XP_011520471.1:n.798+1592C>T
XR_931936.2:n.1386C>T
XR_931937.2:n.1329C>T
XR_931938.2:n.1343+476C>T
XR_931939.2:n.1246+1592C>T
NM_001321135.2:c.872+442C>T	NP_001308064.1:n.872+442C>T
NM_001321136.2:c.820C>T	NP_001308065.1:p.Pro274Ser
NM_003978.5:c.847C>T MANE Select	NP_003969.2:p.Pro283Ser
NR_135552.2:n.1109+1592C>T