Canonical Allele Identifier: CA393520780

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77322917T>G (hg19) ; chr15:g.77030576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77030576T>G , CM000677.2:g.77030576T>G	GRCh38
NC_000015.9:g.77322917T>G , CM000677.1:g.77322917T>G	GRCh37
NC_000015.8:g.75109972T>G	NCBI36
NG_007526.1:g.40453T>G , LRG_172:g.40453T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.317T>G
ENST00000697623.1:n.1037T>G
ENST00000558012.6:c.637T>G MANE Select	ENSP00000452746.1:p.Cys213Gly
ENST00000379595.7:c.637T>G	ENSP00000368914.3:p.Cys213Gly
ENST00000557995.1:n.301T>G
ENST00000558012.5:c.637T>G	ENSP00000452746.1:p.Cys213Gly
ENST00000559295.5:c.637T>G	ENSP00000452743.1:p.Cys213Gly
ENST00000559750.5:c.*278T>G	ENSP00000453531.1:n.*278T>G
ENST00000559785.5:c.832T>G	ENSP00000452986.1:p.Cys278Gly
ENST00000559856.1:c.556T>G	ENSP00000453382.1:p.Cys186Gly
ENST00000560223.5:c.*739T>G	ENSP00000454118.1:n.*739T>G
ENST00000560377.5:n.878T>G
ENST00000561315.5:n.410T>G
NM_003978.3:c.637T>G , LRG_172t1:c.637T>G	NP_003969.2:p.Cys213Gly
XM_006720737.2:c.271T>G	XP_006720800.1:p.Cys91Gly
XM_011522163.1:c.694T>G	XP_011520465.1:p.Cys232Gly
XM_011522164.1:c.592T>G	XP_011520466.1:p.Cys198Gly
XM_011522165.1:c.490T>G	XP_011520467.1:p.Cys164Gly
XM_011522166.1:c.694T>G	XP_011520468.1:p.Cys232Gly
XM_011522167.1:c.694T>G	XP_011520469.1:p.Cys232Gly
XM_011522168.1:c.694T>G	XP_011520470.1:p.Cys232Gly
XM_011522169.1:c.694T>G	XP_011520471.1:p.Cys232Gly
XM_011522170.1:c.371+1002T>G	XP_011520472.1:n.371+1002T>G
XM_011522171.1:c.311+1002T>G	XP_011520473.1:n.311+1002T>G
XM_011522172.1:c.311+1002T>G	XP_011520474.1:n.311+1002T>G
XM_011522173.1:c.311+1002T>G	XP_011520475.1:n.311+1002T>G
XR_931936.1:n.1144T>G
XR_931937.1:n.1087T>G
XR_931938.1:n.1144T>G
XR_931939.1:n.1144T>G
XR_931940.1:n.1069+1002T>G
NM_001321135.1:c.637T>G	NP_001308064.1:p.Cys213Gly
NM_001321136.1:c.610T>G	NP_001308065.1:p.Cys204Gly
NM_001321137.1:c.832T>G	NP_001308066.1:p.Cys278Gly
NM_003978.4:c.637T>G	NP_003969.2:p.Cys213Gly
NR_135552.1:n.1052-604T>G
XM_006720737.3:c.271T>G	XP_006720800.1:p.Cys91Gly
XM_011522163.2:c.694T>G	XP_011520465.1:p.Cys232Gly
XM_011522165.2:c.490T>G	XP_011520467.1:p.Cys164Gly
XM_011522166.2:c.694T>G	XP_011520468.1:p.Cys232Gly
XM_011522167.2:c.694T>G	XP_011520469.1:p.Cys232Gly
XM_011522168.3:c.694T>G	XP_011520470.1:p.Cys232Gly
XM_011522169.2:c.694T>G	XP_011520471.1:p.Cys232Gly
XR_931936.2:n.1142T>G
XR_931937.2:n.1085T>G
XR_931938.2:n.1142T>G
XR_931939.2:n.1142T>G
NM_001321135.2:c.637T>G	NP_001308064.1:p.Cys213Gly
NM_001321136.2:c.610T>G	NP_001308065.1:p.Cys204Gly
NM_003978.5:c.637T>G MANE Select	NP_003969.2:p.Cys213Gly
NR_135552.2:n.1011-604T>G