Canonical Allele Identifier: CA619193279

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs1340412273
• gnomAD v2: 15-77324600-T-C
• gnomAD v4: 15-77032259-T-C
• MyVariant Identifiers: chr15:g.77324600T>C (hg19) ; chr15:g.77032259T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032259T>C , CM000677.2:g.77032259T>C	GRCh38
NC_000015.9:g.77324600T>C , CM000677.1:g.77324600T>C	GRCh37
NC_000015.8:g.75111655T>C	NCBI36
NG_007526.1:g.42136T>C , LRG_172:g.42136T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.1402T>C
ENST00000697623.1:n.2122T>C
ENST00000558012.6:c.742-39T>C MANE Select	ENSP00000452746.1:n.742-39T>C
ENST00000379595.7:c.742-39T>C	ENSP00000368914.3:n.742-39T>C
ENST00000557995.1:n.406-39T>C
ENST00000558012.5:c.742-39T>C	ENSP00000452746.1:n.742-39T>C
ENST00000559295.5:c.742-39T>C	ENSP00000452743.1:n.742-39T>C
ENST00000559785.5:c.937-39T>C	ENSP00000452986.1:n.937-39T>C
ENST00000559856.1:c.661-39T>C	ENSP00000453382.1:n.661-39T>C
ENST00000560223.5:c.*844-39T>C	ENSP00000454118.1:n.*844-39T>C
ENST00000560377.5:n.983-39T>C
NM_003978.3:c.742-39T>C , LRG_172t1:c.742-39T>C	NP_003969.2:n.742-39T>C
XM_006720737.2:c.376-39T>C	XP_006720800.1:n.376-39T>C
XM_011522163.1:c.799-39T>C	XP_011520465.1:n.799-39T>C
XM_011522164.1:c.697-39T>C	XP_011520466.1:n.697-39T>C
XM_011522165.1:c.595-39T>C	XP_011520467.1:n.595-39T>C
XM_011522166.1:c.799-39T>C	XP_011520468.1:n.799-39T>C
XM_011522167.1:c.799-39T>C	XP_011520469.1:n.799-39T>C
XM_011522168.1:c.799-39T>C	XP_011520470.1:n.799-39T>C
XM_011522169.1:c.798+981T>C	XP_011520471.1:n.798+981T>C
XM_011522170.1:c.371+2685T>C	XP_011520472.1:n.371+2685T>C
XM_011522171.1:c.311+2685T>C	XP_011520473.1:n.311+2685T>C
XM_011522172.1:c.311+2685T>C	XP_011520474.1:n.311+2685T>C
XM_011522173.1:c.311+2685T>C	XP_011520475.1:n.311+2685T>C
XR_931936.1:n.1249-39T>C
XR_931937.1:n.1192-39T>C
XR_931938.1:n.1249-39T>C
XR_931939.1:n.1248+981T>C
XR_931940.1:n.1069+2685T>C
NM_001321135.1:c.742-39T>C	NP_001308064.1:n.742-39T>C
NM_001321136.1:c.715-39T>C	NP_001308065.1:n.715-39T>C
NM_001321137.1:c.937-39T>C	NP_001308066.1:n.937-39T>C
NM_003978.4:c.742-39T>C	NP_003969.2:n.742-39T>C
NR_135552.1:n.1150+981T>C
XM_006720737.3:c.376-39T>C	XP_006720800.1:n.376-39T>C
XM_011522163.2:c.799-39T>C	XP_011520465.1:n.799-39T>C
XM_011522165.2:c.595-39T>C	XP_011520467.1:n.595-39T>C
XM_011522166.2:c.799-39T>C	XP_011520468.1:n.799-39T>C
XM_011522167.2:c.799-39T>C	XP_011520469.1:n.799-39T>C
XM_011522168.3:c.799-39T>C	XP_011520470.1:n.799-39T>C
XM_011522169.2:c.798+981T>C	XP_011520471.1:n.798+981T>C
XR_931936.2:n.1247-39T>C
XR_931937.2:n.1190-39T>C
XR_931938.2:n.1247-39T>C
XR_931939.2:n.1246+981T>C
NM_001321135.2:c.742-39T>C	NP_001308064.1:n.742-39T>C
NM_001321136.2:c.715-39T>C	NP_001308065.1:n.715-39T>C
NM_003978.5:c.742-39T>C MANE Select	NP_003969.2:n.742-39T>C
NR_135552.2:n.1109+981T>C