Canonical Allele Identifier: CA292955

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037131C>T , CM000677.2:g.77037131C>T	GRCh38
NC_000015.9:g.77329472C>T , CM000677.1:g.77329472C>T	GRCh37
NC_000015.8:g.75116527C>T	NCBI36
NG_007526.1:g.47008C>T , LRG_172:g.47008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2372C>T
ENST00000697623.1:n.2625C>T
ENST00000558012.6:c.1206C>T MANE Select	ENSP00000452746.1:p.Asn402=
ENST00000379595.7:c.1197C>T	ENSP00000368914.3:p.Asn399=
ENST00000557995.1:n.870C>T
ENST00000558012.5:c.1206C>T	ENSP00000452746.1:p.Asn402=
ENST00000558870.1:c.355C>T
ENST00000559295.5:c.1149C>T	ENSP00000452743.1:p.Asn383=
ENST00000559785.5:c.*181C>T	ENSP00000452986.1:n.*181C>T
ENST00000560064.1:n.329C>T
ENST00000560223.5:c.*1308C>T	ENSP00000454118.1:n.*1308C>T
NM_003978.3:c.1206C>T , LRG_172t1:c.1206C>T	NP_003969.2:p.Asn402=
XM_006720737.2:c.840C>T	XP_006720800.1:p.Asn280=
XM_011522163.1:c.1254C>T	XP_011520465.1:p.Asn418=
XM_011522164.1:c.1161C>T	XP_011520466.1:p.Asn387=
XM_011522165.1:c.1059C>T	XP_011520467.1:p.Asn353=
XM_011522168.1:c.1263C>T	XP_011520470.1:p.Asn421=
XM_011522170.1:c.648C>T	XP_011520472.1:p.Asn216=
XM_011522171.1:c.588C>T	XP_011520473.1:p.Asn196=
XM_011522172.1:c.588C>T	XP_011520474.1:p.Asn196=
XM_011522173.1:c.588C>T	XP_011520475.1:p.Asn196=
XR_931936.1:n.1747C>T
XR_931937.1:n.1690C>T
XR_931938.1:n.1622C>T
XR_931939.1:n.1525C>T
XR_931940.1:n.1346C>T
NM_001321135.1:c.1149C>T	NP_001308064.1:p.Asn383=
NM_001321136.1:c.1179C>T	NP_001308065.1:p.Asn393=
NM_001321137.1:c.1401C>T	NP_001308066.1:p.Asn467=
NM_003978.4:c.1206C>T	NP_003969.2:p.Asn402=
NR_135552.1:n.1427C>T
XM_006720737.3:c.840C>T	XP_006720800.1:p.Asn280=
XM_011522163.2:c.1254C>T	XP_011520465.1:p.Asn418=
XM_011522165.2:c.1059C>T	XP_011520467.1:p.Asn353=
XM_011522168.3:c.1263C>T	XP_011520470.1:p.Asn421=
XR_931936.2:n.1745C>T
XR_931937.2:n.1688C>T
XR_931938.2:n.1620C>T
XR_931939.2:n.1523C>T
NM_001321135.2:c.1149C>T	NP_001308064.1:p.Asn383=
NM_001321136.2:c.1179C>T	NP_001308065.1:p.Asn393=
NM_003978.5:c.1206C>T MANE Select	NP_003969.2:p.Asn402=
NR_135552.2:n.1386C>T