Canonical Allele Identifier: CA491335990

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs2076456104
• MyVariant Identifiers: chr15:g.77325225T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032884T>C , CM000677.2:g.77032884T>C	GRCh38
NC_000015.9:g.77325225T>C , CM000677.1:g.77325225T>C	GRCh37
NC_000015.8:g.75112280T>C	NCBI36
NG_007526.1:g.42761T>C , LRG_172:g.42761T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2027T>C
ENST00000697623.1:n.2280T>C
ENST00000558012.6:c.861T>C MANE Select	ENSP00000452746.1:p.Tyr287=
ENST00000379595.7:c.861T>C	ENSP00000368914.3:p.Tyr287=
ENST00000557995.1:n.525T>C
ENST00000558012.5:c.861T>C	ENSP00000452746.1:p.Tyr287=
ENST00000558870.1:c.78+490T>C
ENST00000559295.5:c.872+456T>C	ENSP00000452743.1:n.872+456T>C
ENST00000559785.5:c.1090T>C	ENSP00000452986.1:p.Leu364=
ENST00000560223.5:c.*963T>C	ENSP00000454118.1:n.*963T>C
NM_003978.3:c.861T>C , LRG_172t1:c.861T>C	NP_003969.2:p.Tyr287=
XM_006720737.2:c.495T>C	XP_006720800.1:p.Tyr165=
XM_011522163.1:c.918T>C	XP_011520465.1:p.Tyr306=
XM_011522164.1:c.816T>C	XP_011520466.1:p.Tyr272=
XM_011522165.1:c.714T>C	XP_011520467.1:p.Tyr238=
XM_011522166.1:c.952T>C	XP_011520468.1:p.Leu318=
XM_011522167.1:c.895+490T>C	XP_011520469.1:n.895+490T>C
XM_011522168.1:c.918T>C	XP_011520470.1:p.Tyr306=
XM_011522169.1:c.798+1606T>C	XP_011520471.1:n.798+1606T>C
XM_011522170.1:c.372-2624T>C	XP_011520472.1:n.372-2624T>C
XM_011522171.1:c.312-2624T>C	XP_011520473.1:n.312-2624T>C
XM_011522172.1:c.312-2624T>C	XP_011520474.1:n.312-2624T>C
XM_011522173.1:c.312-2624T>C	XP_011520475.1:n.312-2624T>C
XR_931936.1:n.1402T>C
XR_931937.1:n.1345T>C
XR_931938.1:n.1345+490T>C
XR_931939.1:n.1248+1606T>C
XR_931940.1:n.1070-2624T>C
NM_001321135.1:c.872+456T>C	NP_001308064.1:n.872+456T>C
NM_001321136.1:c.834T>C	NP_001308065.1:p.Tyr278=
NM_001321137.1:c.1056T>C	NP_001308066.1:p.Tyr352=
NM_003978.4:c.861T>C	NP_003969.2:p.Tyr287=
NR_135552.1:n.1150+1606T>C
XM_006720737.3:c.495T>C	XP_006720800.1:p.Tyr165=
XM_011522163.2:c.918T>C	XP_011520465.1:p.Tyr306=
XM_011522165.2:c.714T>C	XP_011520467.1:p.Tyr238=
XM_011522166.2:c.952T>C	XP_011520468.1:p.Leu318=
XM_011522167.2:c.895+490T>C	XP_011520469.1:n.895+490T>C
XM_011522168.3:c.918T>C	XP_011520470.1:p.Tyr306=
XM_011522169.2:c.798+1606T>C	XP_011520471.1:n.798+1606T>C
XR_931936.2:n.1400T>C
XR_931937.2:n.1343T>C
XR_931938.2:n.1343+490T>C
XR_931939.2:n.1246+1606T>C
NM_001321135.2:c.872+456T>C	NP_001308064.1:n.872+456T>C
NM_001321136.2:c.834T>C	NP_001308065.1:p.Tyr278=
NM_003978.5:c.861T>C MANE Select	NP_003969.2:p.Tyr287=
NR_135552.2:n.1109+1606T>C