Canonical Allele Identifier: CA2629652847

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77033000-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77033000T>C , CM000677.2:g.77033000T>C	GRCh38
NC_000015.9:g.77325341T>C , CM000677.1:g.77325341T>C	GRCh37
NC_000015.8:g.75112396T>C	NCBI36
NG_007526.1:g.42877T>C , LRG_172:g.42877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095+48T>C
ENST00000697623.1:n.2348+48T>C
ENST00000558012.6:c.929+48T>C MANE Select	ENSP00000452746.1:n.929+48T>C
ENST00000379595.7:c.929+48T>C	ENSP00000368914.3:n.929+48T>C
ENST00000557995.1:n.593+48T>C
ENST00000558012.5:c.929+48T>C	ENSP00000452746.1:n.929+48T>C
ENST00000558870.1:c.78+606T>C
ENST00000559295.5:c.872+572T>C	ENSP00000452743.1:n.872+572T>C
ENST00000559785.5:c.1158+48T>C	ENSP00000452986.1:n.1158+48T>C
ENST00000560223.5:c.*1031+48T>C	ENSP00000454118.1:n.*1031+48T>C
NM_003978.3:c.929+48T>C , LRG_172t1:c.929+48T>C	NP_003969.2:n.929+48T>C
XM_006720737.2:c.563+48T>C	XP_006720800.1:n.563+48T>C
XM_011522163.1:c.986+48T>C	XP_011520465.1:n.986+48T>C
XM_011522164.1:c.884+48T>C	XP_011520466.1:n.884+48T>C
XM_011522165.1:c.782+48T>C	XP_011520467.1:n.782+48T>C
XM_011522166.1:c.1020+48T>C	XP_011520468.1:n.1020+48T>C
XM_011522167.1:c.895+606T>C	XP_011520469.1:n.895+606T>C
XM_011522168.1:c.986+48T>C	XP_011520470.1:n.986+48T>C
XM_011522169.1:c.798+1722T>C	XP_011520471.1:n.798+1722T>C
XM_011522170.1:c.372-2508T>C	XP_011520472.1:n.372-2508T>C
XM_011522171.1:c.312-2508T>C	XP_011520473.1:n.312-2508T>C
XM_011522172.1:c.312-2508T>C	XP_011520474.1:n.312-2508T>C
XM_011522173.1:c.312-2508T>C	XP_011520475.1:n.312-2508T>C
XR_931936.1:n.1470+48T>C
XR_931937.1:n.1413+48T>C
XR_931938.1:n.1345+606T>C
XR_931939.1:n.1248+1722T>C
XR_931940.1:n.1070-2508T>C
NM_001321135.1:c.872+572T>C	NP_001308064.1:n.872+572T>C
NM_001321136.1:c.902+48T>C	NP_001308065.1:n.902+48T>C
NM_001321137.1:c.1124+48T>C	NP_001308066.1:n.1124+48T>C
NM_003978.4:c.929+48T>C	NP_003969.2:n.929+48T>C
NR_135552.1:n.1150+1722T>C
XM_006720737.3:c.563+48T>C	XP_006720800.1:n.563+48T>C
XM_011522163.2:c.986+48T>C	XP_011520465.1:n.986+48T>C
XM_011522165.2:c.782+48T>C	XP_011520467.1:n.782+48T>C
XM_011522166.2:c.1020+48T>C	XP_011520468.1:n.1020+48T>C
XM_011522167.2:c.895+606T>C	XP_011520469.1:n.895+606T>C
XM_011522168.3:c.986+48T>C	XP_011520470.1:n.986+48T>C
XM_011522169.2:c.798+1722T>C	XP_011520471.1:n.798+1722T>C
XR_931936.2:n.1468+48T>C
XR_931937.2:n.1411+48T>C
XR_931938.2:n.1343+606T>C
XR_931939.2:n.1246+1722T>C
NM_001321135.2:c.872+572T>C	NP_001308064.1:n.872+572T>C
NM_001321136.2:c.902+48T>C	NP_001308065.1:n.902+48T>C
NM_003978.5:c.929+48T>C MANE Select	NP_003969.2:n.929+48T>C
NR_135552.2:n.1109+1722T>C