Canonical Allele Identifier: CA393521497

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77325290A>T (hg19) ; chr15:g.77032949A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032949A>T , CM000677.2:g.77032949A>T	GRCh38
NC_000015.9:g.77325290A>T , CM000677.1:g.77325290A>T	GRCh37
NC_000015.8:g.75112345A>T	NCBI36
NG_007526.1:g.42826A>T , LRG_172:g.42826A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2092A>T
ENST00000697623.1:n.2345A>T
ENST00000558012.6:c.926A>T MANE Select	ENSP00000452746.1:p.Lys309Met
ENST00000379595.7:c.926A>T	ENSP00000368914.3:p.Lys309Met
ENST00000557995.1:n.590A>T
ENST00000558012.5:c.926A>T	ENSP00000452746.1:p.Lys309Met
ENST00000558870.1:c.78+555A>T
ENST00000559295.5:c.872+521A>T	ENSP00000452743.1:n.872+521A>T
ENST00000559785.5:c.1155A>T	ENSP00000452986.1:p.Lys385Asn
ENST00000560223.5:c.*1028A>T	ENSP00000454118.1:n.*1028A>T
NM_003978.3:c.926A>T , LRG_172t1:c.926A>T	NP_003969.2:p.Lys309Met
XM_006720737.2:c.560A>T	XP_006720800.1:p.Lys187Met
XM_011522163.1:c.983A>T	XP_011520465.1:p.Lys328Met
XM_011522164.1:c.881A>T	XP_011520466.1:p.Lys294Met
XM_011522165.1:c.779A>T	XP_011520467.1:p.Lys260Met
XM_011522166.1:c.1017A>T	XP_011520468.1:p.Lys339Asn
XM_011522167.1:c.895+555A>T	XP_011520469.1:n.895+555A>T
XM_011522168.1:c.983A>T	XP_011520470.1:p.Lys328Met
XM_011522169.1:c.798+1671A>T	XP_011520471.1:n.798+1671A>T
XM_011522170.1:c.372-2559A>T	XP_011520472.1:n.372-2559A>T
XM_011522171.1:c.312-2559A>T	XP_011520473.1:n.312-2559A>T
XM_011522172.1:c.312-2559A>T	XP_011520474.1:n.312-2559A>T
XM_011522173.1:c.312-2559A>T	XP_011520475.1:n.312-2559A>T
XR_931936.1:n.1467A>T
XR_931937.1:n.1410A>T
XR_931938.1:n.1345+555A>T
XR_931939.1:n.1248+1671A>T
XR_931940.1:n.1070-2559A>T
NM_001321135.1:c.872+521A>T	NP_001308064.1:n.872+521A>T
NM_001321136.1:c.899A>T	NP_001308065.1:p.Lys300Met
NM_001321137.1:c.1121A>T	NP_001308066.1:p.Lys374Met
NM_003978.4:c.926A>T	NP_003969.2:p.Lys309Met
NR_135552.1:n.1150+1671A>T
XM_006720737.3:c.560A>T	XP_006720800.1:p.Lys187Met
XM_011522163.2:c.983A>T	XP_011520465.1:p.Lys328Met
XM_011522165.2:c.779A>T	XP_011520467.1:p.Lys260Met
XM_011522166.2:c.1017A>T	XP_011520468.1:p.Lys339Asn
XM_011522167.2:c.895+555A>T	XP_011520469.1:n.895+555A>T
XM_011522168.3:c.983A>T	XP_011520470.1:p.Lys328Met
XM_011522169.2:c.798+1671A>T	XP_011520471.1:n.798+1671A>T
XR_931936.2:n.1465A>T
XR_931937.2:n.1408A>T
XR_931938.2:n.1343+555A>T
XR_931939.2:n.1246+1671A>T
NM_001321135.2:c.872+521A>T	NP_001308064.1:n.872+521A>T
NM_001321136.2:c.899A>T	NP_001308065.1:p.Lys300Met
NM_003978.5:c.926A>T MANE Select	NP_003969.2:p.Lys309Met
NR_135552.2:n.1109+1671A>T