Canonical Allele Identifier: CA7675652

Gene: PSTPIP1

Linked Data

• ClinVar Variation Id: 259210
• ClinVar RCV Id: RCV000252946 ; RCV000828191 ; RCV002519920
• dbSNP Id: rs752123803
• ExAC: 15:77287965 T / C
• gnomAD v2: 15-77287965-T-C
• gnomAD v4: 15-76995624-T-C
• MyVariant Identifiers: chr15:g.77287965T>C (hg19) ; chr15:g.76995624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76995624T>C , CM000677.2:g.76995624T>C	GRCh38
NC_000015.9:g.77287965T>C , CM000677.1:g.77287965T>C	GRCh37
NC_000015.8:g.75075020T>C	NCBI36
NG_007526.1:g.5501T>C , LRG_172:g.5501T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.40+418T>C
ENST00000697623.1:n.384+15T>C
ENST00000558012.6:c.36+15T>C MANE Select	ENSP00000452746.1:n.36+15T>C
ENST00000379595.7:c.36+15T>C	ENSP00000368914.3:n.36+15T>C
ENST00000558012.5:c.36+15T>C	ENSP00000452746.1:n.36+15T>C
ENST00000558407.5:c.231+15T>C	ENSP00000453268.1:n.231+15T>C
ENST00000559161.5:c.36+15T>C	ENSP00000453372.1:n.36+15T>C
ENST00000559295.5:c.36+15T>C	ENSP00000452743.1:n.36+15T>C
ENST00000559750.5:c.36+15T>C	ENSP00000453531.1:n.36+15T>C
ENST00000559785.5:c.231+15T>C	ENSP00000452986.1:n.231+15T>C
ENST00000559795.5:n.484+15T>C
ENST00000560223.5:c.36+15T>C	ENSP00000454118.1:n.36+15T>C
ENST00000560377.5:n.225+15T>C
ENST00000560621.5:n.248+15T>C
ENST00000560796.5:c.-221+15T>C	ENSP00000454127.1:n.-221+15T>C
NM_003978.3:c.36+15T>C , LRG_172t1:c.36+15T>C	NP_003969.2:n.36+15T>C
XM_006720737.2:c.-383+15T>C	XP_006720800.1:n.-383+15T>C
XM_011522163.1:c.36+15T>C	XP_011520465.1:n.36+15T>C
XM_011522166.1:c.36+15T>C	XP_011520468.1:n.36+15T>C
XM_011522167.1:c.36+15T>C	XP_011520469.1:n.36+15T>C
XM_011522168.1:c.36+15T>C	XP_011520470.1:n.36+15T>C
XM_011522169.1:c.36+15T>C	XP_011520471.1:n.36+15T>C
XM_011522171.1:c.-320+15T>C	XP_011520473.1:n.-320+15T>C
XM_011522172.1:c.-372+15T>C	XP_011520474.1:n.-372+15T>C
XR_931936.1:n.486+15T>C
XR_931937.1:n.486+15T>C
XR_931938.1:n.486+15T>C
XR_931939.1:n.486+15T>C
XR_931940.1:n.486+15T>C
NM_001321135.1:c.36+15T>C	NP_001308064.1:n.36+15T>C
NM_001321136.1:c.-211+15T>C	NP_001308065.1:n.-211+15T>C
NM_001321137.1:c.231+15T>C	NP_001308066.1:n.231+15T>C
NM_003978.4:c.36+15T>C	NP_003969.2:n.36+15T>C
NR_135552.1:n.525+15T>C
XM_006720737.3:c.-383+15T>C	XP_006720800.1:n.-383+15T>C
XM_011522163.2:c.36+15T>C	XP_011520465.1:n.36+15T>C
XM_011522166.2:c.36+15T>C	XP_011520468.1:n.36+15T>C
XM_011522167.2:c.36+15T>C	XP_011520469.1:n.36+15T>C
XM_011522168.3:c.36+15T>C	XP_011520470.1:n.36+15T>C
XM_011522169.2:c.36+15T>C	XP_011520471.1:n.36+15T>C
XR_931936.2:n.484+15T>C
XR_931937.2:n.484+15T>C
XR_931938.2:n.484+15T>C
XR_931939.2:n.484+15T>C
NM_001321135.2:c.36+15T>C	NP_001308064.1:n.36+15T>C
NM_001321136.2:c.-211+15T>C	NP_001308065.1:n.-211+15T>C
NM_003978.5:c.36+15T>C MANE Select	NP_003969.2:n.36+15T>C
NR_135552.2:n.484+15T>C