Canonical Allele Identifier: CA7675861

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77029567C>T , CM000677.2:g.77029567C>T	GRCh38
NC_000015.9:g.77321908C>T , CM000677.1:g.77321908C>T	GRCh37
NC_000015.8:g.75108963C>T	NCBI36
NG_007526.1:g.39444C>T , LRG_172:g.39444C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.235C>T
ENST00000697623.1:n.955C>T
ENST00000558012.6:c.555C>T MANE Select	ENSP00000452746.1:p.Thr185=
ENST00000379595.7:c.555C>T	ENSP00000368914.3:p.Thr185=
ENST00000557995.1:n.219C>T
ENST00000558012.5:c.555C>T	ENSP00000452746.1:p.Thr185=
ENST00000559161.5:c.546C>T	ENSP00000453372.1:p.Thr182=
ENST00000559295.5:c.555C>T	ENSP00000452743.1:p.Thr185=
ENST00000559750.5:c.*196C>T	ENSP00000453531.1:n.*196C>T
ENST00000559785.5:c.750C>T	ENSP00000452986.1:p.Thr250=
ENST00000559856.1:c.474C>T	ENSP00000453382.1:p.Thr158=
ENST00000560223.5:c.*657C>T	ENSP00000454118.1:n.*657C>T
ENST00000560377.5:n.796C>T
ENST00000561315.5:n.328C>T
NM_003978.3:c.555C>T , LRG_172t1:c.555C>T	NP_003969.2:p.Thr185=
XM_006720737.2:c.189C>T	XP_006720800.1:p.Thr63=
XM_011522163.1:c.612C>T	XP_011520465.1:p.Thr204=
XM_011522164.1:c.510C>T	XP_011520466.1:p.Thr170=
XM_011522165.1:c.408C>T	XP_011520467.1:p.Thr136=
XM_011522166.1:c.612C>T	XP_011520468.1:p.Thr204=
XM_011522167.1:c.612C>T	XP_011520469.1:p.Thr204=
XM_011522168.1:c.612C>T	XP_011520470.1:p.Thr204=
XM_011522169.1:c.612C>T	XP_011520471.1:p.Thr204=
XM_011522170.1:c.364C>T	XP_011520472.1:p.Arg122Ter
XM_011522171.1:c.304C>T	XP_011520473.1:p.Arg102Ter
XM_011522172.1:c.304C>T	XP_011520474.1:p.Arg102Ter
XM_011522173.1:c.304C>T	XP_011520475.1:p.Arg102Ter
XR_931936.1:n.1062C>T
XR_931937.1:n.1005C>T
XR_931938.1:n.1062C>T
XR_931939.1:n.1062C>T
XR_931940.1:n.1062C>T
NM_001321135.1:c.555C>T	NP_001308064.1:p.Thr185=
NM_001321136.1:c.528C>T	NP_001308065.1:p.Thr176=
NM_001321137.1:c.750C>T	NP_001308066.1:p.Thr250=
NM_003978.4:c.555C>T	NP_003969.2:p.Thr185=
NR_135552.1:n.1044C>T
XM_006720737.3:c.189C>T	XP_006720800.1:p.Thr63=
XM_011522163.2:c.612C>T	XP_011520465.1:p.Thr204=
XM_011522165.2:c.408C>T	XP_011520467.1:p.Thr136=
XM_011522166.2:c.612C>T	XP_011520468.1:p.Thr204=
XM_011522167.2:c.612C>T	XP_011520469.1:p.Thr204=
XM_011522168.3:c.612C>T	XP_011520470.1:p.Thr204=
XM_011522169.2:c.612C>T	XP_011520471.1:p.Thr204=
XR_931936.2:n.1060C>T
XR_931937.2:n.1003C>T
XR_931938.2:n.1060C>T
XR_931939.2:n.1060C>T
NM_001321135.2:c.555C>T	NP_001308064.1:p.Thr185=
NM_001321136.2:c.528C>T	NP_001308065.1:p.Thr176=
NM_003978.5:c.555C>T MANE Select	NP_003969.2:p.Thr185=
NR_135552.2:n.1003C>T