Canonical Allele Identifier: CA393521397

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032901-C-A
• MyVariant Identifiers: chr15:g.77325242C>A (hg19) ; chr15:g.77032901C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032901C>A , CM000677.2:g.77032901C>A	GRCh38
NC_000015.9:g.77325242C>A , CM000677.1:g.77325242C>A	GRCh37
NC_000015.8:g.75112297C>A	NCBI36
NG_007526.1:g.42778C>A , LRG_172:g.42778C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2044C>A
ENST00000697623.1:n.2297C>A
ENST00000558012.6:c.878C>A MANE Select	ENSP00000452746.1:p.Thr293Asn
ENST00000379595.7:c.878C>A	ENSP00000368914.3:p.Thr293Asn
ENST00000557995.1:n.542C>A
ENST00000558012.5:c.878C>A	ENSP00000452746.1:p.Thr293Asn
ENST00000558870.1:c.78+507C>A
ENST00000559295.5:c.872+473C>A	ENSP00000452743.1:n.872+473C>A
ENST00000559785.5:c.1107C>A	ENSP00000452986.1:p.His369Gln
ENST00000560223.5:c.*980C>A	ENSP00000454118.1:n.*980C>A
NM_003978.3:c.878C>A , LRG_172t1:c.878C>A	NP_003969.2:p.Thr293Asn
XM_006720737.2:c.512C>A	XP_006720800.1:p.Thr171Asn
XM_011522163.1:c.935C>A	XP_011520465.1:p.Thr312Asn
XM_011522164.1:c.833C>A	XP_011520466.1:p.Thr278Asn
XM_011522165.1:c.731C>A	XP_011520467.1:p.Thr244Asn
XM_011522166.1:c.969C>A	XP_011520468.1:p.His323Gln
XM_011522167.1:c.895+507C>A	XP_011520469.1:n.895+507C>A
XM_011522168.1:c.935C>A	XP_011520470.1:p.Thr312Asn
XM_011522169.1:c.798+1623C>A	XP_011520471.1:n.798+1623C>A
XM_011522170.1:c.372-2607C>A	XP_011520472.1:n.372-2607C>A
XM_011522171.1:c.312-2607C>A	XP_011520473.1:n.312-2607C>A
XM_011522172.1:c.312-2607C>A	XP_011520474.1:n.312-2607C>A
XM_011522173.1:c.312-2607C>A	XP_011520475.1:n.312-2607C>A
XR_931936.1:n.1419C>A
XR_931937.1:n.1362C>A
XR_931938.1:n.1345+507C>A
XR_931939.1:n.1248+1623C>A
XR_931940.1:n.1070-2607C>A
NM_001321135.1:c.872+473C>A	NP_001308064.1:n.872+473C>A
NM_001321136.1:c.851C>A	NP_001308065.1:p.Thr284Asn
NM_001321137.1:c.1073C>A	NP_001308066.1:p.Thr358Asn
NM_003978.4:c.878C>A	NP_003969.2:p.Thr293Asn
NR_135552.1:n.1150+1623C>A
XM_006720737.3:c.512C>A	XP_006720800.1:p.Thr171Asn
XM_011522163.2:c.935C>A	XP_011520465.1:p.Thr312Asn
XM_011522165.2:c.731C>A	XP_011520467.1:p.Thr244Asn
XM_011522166.2:c.969C>A	XP_011520468.1:p.His323Gln
XM_011522167.2:c.895+507C>A	XP_011520469.1:n.895+507C>A
XM_011522168.3:c.935C>A	XP_011520470.1:p.Thr312Asn
XM_011522169.2:c.798+1623C>A	XP_011520471.1:n.798+1623C>A
XR_931936.2:n.1417C>A
XR_931937.2:n.1360C>A
XR_931938.2:n.1343+507C>A
XR_931939.2:n.1246+1623C>A
NM_001321135.2:c.872+473C>A	NP_001308064.1:n.872+473C>A
NM_001321136.2:c.851C>A	NP_001308065.1:p.Thr284Asn
NM_003978.5:c.878C>A MANE Select	NP_003969.2:p.Thr293Asn
NR_135552.2:n.1109+1623C>A