Canonical Allele Identifier: CA7676155

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77035888G>C , CM000677.2:g.77035888G>C	GRCh38
NC_000015.9:g.77328229G>C , CM000677.1:g.77328229G>C	GRCh37
NC_000015.8:g.75115284G>C	NCBI36
NG_007526.1:g.45765G>C , LRG_172:g.45765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2238G>C
ENST00000697623.1:n.2491G>C
ENST00000558012.6:c.1072G>C MANE Select	ENSP00000452746.1:p.Ala358Pro
ENST00000379595.7:c.1063G>C	ENSP00000368914.3:p.Ala355Pro
ENST00000557995.1:n.736G>C
ENST00000558012.5:c.1072G>C	ENSP00000452746.1:p.Ala358Pro
ENST00000558870.1:c.221G>C
ENST00000559295.5:c.1015G>C	ENSP00000452743.1:p.Ala339Pro
ENST00000559785.5:c.*47G>C	ENSP00000452986.1:n.*47G>C
ENST00000560064.1:n.195G>C
ENST00000560223.5:c.*1174G>C	ENSP00000454118.1:n.*1174G>C
NM_003978.3:c.1072G>C , LRG_172t1:c.1072G>C	NP_003969.2:p.Ala358Pro
XM_006720737.2:c.706G>C	XP_006720800.1:p.Ala236Pro
XM_011522163.1:c.1120G>C	XP_011520465.1:p.Ala374Pro
XM_011522164.1:c.1027G>C	XP_011520466.1:p.Ala343Pro
XM_011522165.1:c.925G>C	XP_011520467.1:p.Ala309Pro
XM_011522166.1:c.*77G>C	XP_011520468.1:n.*77G>C
XM_011522167.1:c.*69G>C	XP_011520469.1:n.*69G>C
XM_011522168.1:c.1129G>C	XP_011520470.1:p.Ala377Pro
XM_011522169.1:c.*77G>C	XP_011520471.1:n.*77G>C
XM_011522170.1:c.514G>C	XP_011520472.1:p.Ala172Pro
XM_011522171.1:c.454G>C	XP_011520473.1:p.Ala152Pro
XM_011522172.1:c.454G>C	XP_011520474.1:p.Ala152Pro
XM_011522173.1:c.454G>C	XP_011520475.1:p.Ala152Pro
XR_931936.1:n.1613G>C
XR_931937.1:n.1556G>C
XR_931938.1:n.1488G>C
XR_931939.1:n.1391G>C
XR_931940.1:n.1212G>C
NM_001321135.1:c.1015G>C	NP_001308064.1:p.Ala339Pro
NM_001321136.1:c.1045G>C	NP_001308065.1:p.Ala349Pro
NM_001321137.1:c.1267G>C	NP_001308066.1:p.Ala423Pro
NM_003978.4:c.1072G>C	NP_003969.2:p.Ala358Pro
NR_135552.1:n.1293G>C
XM_006720737.3:c.706G>C	XP_006720800.1:p.Ala236Pro
XM_011522163.2:c.1120G>C	XP_011520465.1:p.Ala374Pro
XM_011522165.2:c.925G>C	XP_011520467.1:p.Ala309Pro
XM_011522166.2:c.*77G>C	XP_011520468.1:n.*77G>C
XM_011522167.2:c.*69G>C	XP_011520469.1:n.*69G>C
XM_011522168.3:c.1129G>C	XP_011520470.1:p.Ala377Pro
XM_011522169.2:c.*77G>C	XP_011520471.1:n.*77G>C
XR_931936.2:n.1611G>C
XR_931937.2:n.1554G>C
XR_931938.2:n.1486G>C
XR_931939.2:n.1389G>C
NM_001321135.2:c.1015G>C	NP_001308064.1:p.Ala339Pro
NM_001321136.2:c.1045G>C	NP_001308065.1:p.Ala349Pro
NM_003978.5:c.1072G>C MANE Select	NP_003969.2:p.Ala358Pro
NR_135552.2:n.1252G>C