Canonical Allele Identifier: CA393521367

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77325226T>G (hg19) ; chr15:g.77032885T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032885T>G , CM000677.2:g.77032885T>G	GRCh38
NC_000015.9:g.77325226T>G , CM000677.1:g.77325226T>G	GRCh37
NC_000015.8:g.75112281T>G	NCBI36
NG_007526.1:g.42762T>G , LRG_172:g.42762T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2028T>G
ENST00000697623.1:n.2281T>G
ENST00000558012.6:c.862T>G MANE Select	ENSP00000452746.1:p.Tyr288Asp
ENST00000379595.7:c.862T>G	ENSP00000368914.3:p.Tyr288Asp
ENST00000557995.1:n.526T>G
ENST00000558012.5:c.862T>G	ENSP00000452746.1:p.Tyr288Asp
ENST00000558870.1:c.78+491T>G
ENST00000559295.5:c.872+457T>G	ENSP00000452743.1:n.872+457T>G
ENST00000559785.5:c.1091T>G	ENSP00000452986.1:p.Leu364Ter
ENST00000560223.5:c.*964T>G	ENSP00000454118.1:n.*964T>G
NM_003978.3:c.862T>G , LRG_172t1:c.862T>G	NP_003969.2:p.Tyr288Asp
XM_006720737.2:c.496T>G	XP_006720800.1:p.Tyr166Asp
XM_011522163.1:c.919T>G	XP_011520465.1:p.Tyr307Asp
XM_011522164.1:c.817T>G	XP_011520466.1:p.Tyr273Asp
XM_011522165.1:c.715T>G	XP_011520467.1:p.Tyr239Asp
XM_011522166.1:c.953T>G	XP_011520468.1:p.Leu318Ter
XM_011522167.1:c.895+491T>G	XP_011520469.1:n.895+491T>G
XM_011522168.1:c.919T>G	XP_011520470.1:p.Tyr307Asp
XM_011522169.1:c.798+1607T>G	XP_011520471.1:n.798+1607T>G
XM_011522170.1:c.372-2623T>G	XP_011520472.1:n.372-2623T>G
XM_011522171.1:c.312-2623T>G	XP_011520473.1:n.312-2623T>G
XM_011522172.1:c.312-2623T>G	XP_011520474.1:n.312-2623T>G
XM_011522173.1:c.312-2623T>G	XP_011520475.1:n.312-2623T>G
XR_931936.1:n.1403T>G
XR_931937.1:n.1346T>G
XR_931938.1:n.1345+491T>G
XR_931939.1:n.1248+1607T>G
XR_931940.1:n.1070-2623T>G
NM_001321135.1:c.872+457T>G	NP_001308064.1:n.872+457T>G
NM_001321136.1:c.835T>G	NP_001308065.1:p.Tyr279Asp
NM_001321137.1:c.1057T>G	NP_001308066.1:p.Tyr353Asp
NM_003978.4:c.862T>G	NP_003969.2:p.Tyr288Asp
NR_135552.1:n.1150+1607T>G
XM_006720737.3:c.496T>G	XP_006720800.1:p.Tyr166Asp
XM_011522163.2:c.919T>G	XP_011520465.1:p.Tyr307Asp
XM_011522165.2:c.715T>G	XP_011520467.1:p.Tyr239Asp
XM_011522166.2:c.953T>G	XP_011520468.1:p.Leu318Ter
XM_011522167.2:c.895+491T>G	XP_011520469.1:n.895+491T>G
XM_011522168.3:c.919T>G	XP_011520470.1:p.Tyr307Asp
XM_011522169.2:c.798+1607T>G	XP_011520471.1:n.798+1607T>G
XR_931936.2:n.1401T>G
XR_931937.2:n.1344T>G
XR_931938.2:n.1343+491T>G
XR_931939.2:n.1246+1607T>G
NM_001321135.2:c.872+457T>G	NP_001308064.1:n.872+457T>G
NM_001321136.2:c.835T>G	NP_001308065.1:p.Tyr279Asp
NM_003978.5:c.862T>G MANE Select	NP_003969.2:p.Tyr288Asp
NR_135552.2:n.1109+1607T>G