Canonical Allele Identifier: CA2629651886

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032713-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032713T>C , CM000677.2:g.77032713T>C	GRCh38
NC_000015.9:g.77325054T>C , CM000677.1:g.77325054T>C	GRCh37
NC_000015.8:g.75112109T>C	NCBI36
NG_007526.1:g.42590T>C , LRG_172:g.42590T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1856T>C
ENST00000697623.1:n.2258-149T>C
ENST00000558012.6:c.839-149T>C MANE Select	ENSP00000452746.1:n.839-149T>C
ENST00000379595.7:c.839-149T>C	ENSP00000368914.3:n.839-149T>C
ENST00000557995.1:n.503-149T>C
ENST00000558012.5:c.839-149T>C	ENSP00000452746.1:n.839-149T>C
ENST00000558870.1:c.78+319T>C
ENST00000559295.5:c.872+285T>C	ENSP00000452743.1:n.872+285T>C
ENST00000559785.5:c.1068-149T>C	ENSP00000452986.1:n.1068-149T>C
ENST00000560223.5:c.*941-149T>C	ENSP00000454118.1:n.*941-149T>C
ENST00000560377.5:n.1398T>C
NM_003978.3:c.839-149T>C , LRG_172t1:c.839-149T>C	NP_003969.2:n.839-149T>C
XM_006720737.2:c.473-149T>C	XP_006720800.1:n.473-149T>C
XM_011522163.1:c.896-149T>C	XP_011520465.1:n.896-149T>C
XM_011522164.1:c.794-149T>C	XP_011520466.1:n.794-149T>C
XM_011522165.1:c.692-149T>C	XP_011520467.1:n.692-149T>C
XM_011522166.1:c.930-149T>C	XP_011520468.1:n.930-149T>C
XM_011522167.1:c.895+319T>C	XP_011520469.1:n.895+319T>C
XM_011522168.1:c.896-149T>C	XP_011520470.1:n.896-149T>C
XM_011522169.1:c.798+1435T>C	XP_011520471.1:n.798+1435T>C
XM_011522170.1:c.372-2795T>C	XP_011520472.1:n.372-2795T>C
XM_011522171.1:c.312-2795T>C	XP_011520473.1:n.312-2795T>C
XM_011522172.1:c.312-2795T>C	XP_011520474.1:n.312-2795T>C
XM_011522173.1:c.312-2795T>C	XP_011520475.1:n.312-2795T>C
XR_931936.1:n.1380-149T>C
XR_931937.1:n.1323-149T>C
XR_931938.1:n.1345+319T>C
XR_931939.1:n.1248+1435T>C
XR_931940.1:n.1070-2795T>C
NM_001321135.1:c.872+285T>C	NP_001308064.1:n.872+285T>C
NM_001321136.1:c.812-149T>C	NP_001308065.1:n.812-149T>C
NM_001321137.1:c.1034-149T>C	NP_001308066.1:n.1034-149T>C
NM_003978.4:c.839-149T>C	NP_003969.2:n.839-149T>C
NR_135552.1:n.1150+1435T>C
XM_006720737.3:c.473-149T>C	XP_006720800.1:n.473-149T>C
XM_011522163.2:c.896-149T>C	XP_011520465.1:n.896-149T>C
XM_011522165.2:c.692-149T>C	XP_011520467.1:n.692-149T>C
XM_011522166.2:c.930-149T>C	XP_011520468.1:n.930-149T>C
XM_011522167.2:c.895+319T>C	XP_011520469.1:n.895+319T>C
XM_011522168.3:c.896-149T>C	XP_011520470.1:n.896-149T>C
XM_011522169.2:c.798+1435T>C	XP_011520471.1:n.798+1435T>C
XR_931936.2:n.1378-149T>C
XR_931937.2:n.1321-149T>C
XR_931938.2:n.1343+319T>C
XR_931939.2:n.1246+1435T>C
NM_001321135.2:c.872+285T>C	NP_001308064.1:n.872+285T>C
NM_001321136.2:c.812-149T>C	NP_001308065.1:n.812-149T>C
NM_003978.5:c.839-149T>C MANE Select	NP_003969.2:n.839-149T>C
NR_135552.2:n.1109+1435T>C