Canonical Allele Identifier: CA393521992

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77329420T>G (hg19) ; chr15:g.77037079T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037079T>G , CM000677.2:g.77037079T>G	GRCh38
NC_000015.9:g.77329420T>G , CM000677.1:g.77329420T>G	GRCh37
NC_000015.8:g.75116475T>G	NCBI36
NG_007526.1:g.46956T>G , LRG_172:g.46956T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2320T>G
ENST00000697623.1:n.2573T>G
ENST00000558012.6:c.1154T>G MANE Select	ENSP00000452746.1:p.Ile385Ser
ENST00000379595.7:c.1145T>G	ENSP00000368914.3:p.Ile382Ser
ENST00000557995.1:n.818T>G
ENST00000558012.5:c.1154T>G	ENSP00000452746.1:p.Ile385Ser
ENST00000558870.1:c.303T>G
ENST00000559295.5:c.1097T>G	ENSP00000452743.1:p.Ile366Ser
ENST00000559785.5:c.*129T>G	ENSP00000452986.1:n.*129T>G
ENST00000560064.1:n.277T>G
ENST00000560223.5:c.*1256T>G	ENSP00000454118.1:n.*1256T>G
NM_003978.3:c.1154T>G , LRG_172t1:c.1154T>G	NP_003969.2:p.Ile385Ser
XM_006720737.2:c.788T>G	XP_006720800.1:p.Ile263Ser
XM_011522163.1:c.1202T>G	XP_011520465.1:p.Ile401Ser
XM_011522164.1:c.1109T>G	XP_011520466.1:p.Ile370Ser
XM_011522165.1:c.1007T>G	XP_011520467.1:p.Ile336Ser
XM_011522168.1:c.1211T>G	XP_011520470.1:p.Ile404Ser
XM_011522170.1:c.596T>G	XP_011520472.1:p.Ile199Ser
XM_011522171.1:c.536T>G	XP_011520473.1:p.Ile179Ser
XM_011522172.1:c.536T>G	XP_011520474.1:p.Ile179Ser
XM_011522173.1:c.536T>G	XP_011520475.1:p.Ile179Ser
XR_931936.1:n.1695T>G
XR_931937.1:n.1638T>G
XR_931938.1:n.1570T>G
XR_931939.1:n.1473T>G
XR_931940.1:n.1294T>G
NM_001321135.1:c.1097T>G	NP_001308064.1:p.Ile366Ser
NM_001321136.1:c.1127T>G	NP_001308065.1:p.Ile376Ser
NM_001321137.1:c.1349T>G	NP_001308066.1:p.Ile450Ser
NM_003978.4:c.1154T>G	NP_003969.2:p.Ile385Ser
NR_135552.1:n.1375T>G
XM_006720737.3:c.788T>G	XP_006720800.1:p.Ile263Ser
XM_011522163.2:c.1202T>G	XP_011520465.1:p.Ile401Ser
XM_011522165.2:c.1007T>G	XP_011520467.1:p.Ile336Ser
XM_011522168.3:c.1211T>G	XP_011520470.1:p.Ile404Ser
XR_931936.2:n.1693T>G
XR_931937.2:n.1636T>G
XR_931938.2:n.1568T>G
XR_931939.2:n.1471T>G
NM_001321135.2:c.1097T>G	NP_001308064.1:p.Ile366Ser
NM_001321136.2:c.1127T>G	NP_001308065.1:p.Ile376Ser
NM_003978.5:c.1154T>G MANE Select	NP_003969.2:p.Ile385Ser
NR_135552.2:n.1334T>G