Canonical Allele Identifier: CA393521467

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032936-T-C
• MyVariant Identifiers: chr15:g.77325277T>C (hg19) ; chr15:g.77032936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032936T>C , CM000677.2:g.77032936T>C	GRCh38
NC_000015.9:g.77325277T>C , CM000677.1:g.77325277T>C	GRCh37
NC_000015.8:g.75112332T>C	NCBI36
NG_007526.1:g.42813T>C , LRG_172:g.42813T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2079T>C
ENST00000697623.1:n.2332T>C
ENST00000558012.6:c.913T>C MANE Select	ENSP00000452746.1:p.Cys305Arg
ENST00000379595.7:c.913T>C	ENSP00000368914.3:p.Cys305Arg
ENST00000557995.1:n.577T>C
ENST00000558012.5:c.913T>C	ENSP00000452746.1:p.Cys305Arg
ENST00000558870.1:c.78+542T>C
ENST00000559295.5:c.872+508T>C	ENSP00000452743.1:n.872+508T>C
ENST00000559785.5:c.1142T>C	ENSP00000452986.1:p.Leu381Pro
ENST00000560223.5:c.*1015T>C	ENSP00000454118.1:n.*1015T>C
NM_003978.3:c.913T>C , LRG_172t1:c.913T>C	NP_003969.2:p.Cys305Arg
XM_006720737.2:c.547T>C	XP_006720800.1:p.Cys183Arg
XM_011522163.1:c.970T>C	XP_011520465.1:p.Cys324Arg
XM_011522164.1:c.868T>C	XP_011520466.1:p.Cys290Arg
XM_011522165.1:c.766T>C	XP_011520467.1:p.Cys256Arg
XM_011522166.1:c.1004T>C	XP_011520468.1:p.Leu335Pro
XM_011522167.1:c.895+542T>C	XP_011520469.1:n.895+542T>C
XM_011522168.1:c.970T>C	XP_011520470.1:p.Cys324Arg
XM_011522169.1:c.798+1658T>C	XP_011520471.1:n.798+1658T>C
XM_011522170.1:c.372-2572T>C	XP_011520472.1:n.372-2572T>C
XM_011522171.1:c.312-2572T>C	XP_011520473.1:n.312-2572T>C
XM_011522172.1:c.312-2572T>C	XP_011520474.1:n.312-2572T>C
XM_011522173.1:c.312-2572T>C	XP_011520475.1:n.312-2572T>C
XR_931936.1:n.1454T>C
XR_931937.1:n.1397T>C
XR_931938.1:n.1345+542T>C
XR_931939.1:n.1248+1658T>C
XR_931940.1:n.1070-2572T>C
NM_001321135.1:c.872+508T>C	NP_001308064.1:n.872+508T>C
NM_001321136.1:c.886T>C	NP_001308065.1:p.Cys296Arg
NM_001321137.1:c.1108T>C	NP_001308066.1:p.Cys370Arg
NM_003978.4:c.913T>C	NP_003969.2:p.Cys305Arg
NR_135552.1:n.1150+1658T>C
XM_006720737.3:c.547T>C	XP_006720800.1:p.Cys183Arg
XM_011522163.2:c.970T>C	XP_011520465.1:p.Cys324Arg
XM_011522165.2:c.766T>C	XP_011520467.1:p.Cys256Arg
XM_011522166.2:c.1004T>C	XP_011520468.1:p.Leu335Pro
XM_011522167.2:c.895+542T>C	XP_011520469.1:n.895+542T>C
XM_011522168.3:c.970T>C	XP_011520470.1:p.Cys324Arg
XM_011522169.2:c.798+1658T>C	XP_011520471.1:n.798+1658T>C
XR_931936.2:n.1452T>C
XR_931937.2:n.1395T>C
XR_931938.2:n.1343+542T>C
XR_931939.2:n.1246+1658T>C
NM_001321135.2:c.872+508T>C	NP_001308064.1:n.872+508T>C
NM_001321136.2:c.886T>C	NP_001308065.1:p.Cys296Arg
NM_003978.5:c.913T>C MANE Select	NP_003969.2:p.Cys305Arg
NR_135552.2:n.1109+1658T>C