Canonical Allele Identifier: CA350204844

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• MyVariant Identifiers: chr2:g.198365810T>A (hg19) ; chr2:g.197501086T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197501086T>A , CM000664.2:g.197501086T>A	GRCh38
NC_000002.11:g.198365810T>A , CM000664.1:g.198365810T>A	GRCh37
NC_000002.10:g.198074055T>A	NCBI36
NG_008914.1:g.6090T>A
NG_008915.1:g.4189A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233893.10:c.16T>A (HSPE1) MANE Select	ENSP00000233893.5:p.Phe6Ile
ENST00000426480.2:c.-2-2236A>T (HSPD1)	ENSP00000414446.2:n.-2-2236A>T
ENST00000233893.9:c.16T>A (HSPE1)	ENSP00000233893.5:p.Phe6Ile
ENST00000409468.1:c.16T>A (HSPE1)	ENSP00000386447.1:p.Phe6Ile
ENST00000409729.1:c.3+647T>A (HSPE1)	ENSP00000387101.1:n.3+647T>A
ENST00000426480.1:c.125-2236A>T (HSPD1)	ENSP00000414446.1:n.125-2236A>T
ENST00000463841.1:n.205T>A (HSPE1)
ENST00000465573.1:n.376+168T>A (HSPE1)
ENST00000473395.1:n.104T>A (HSPE1)
ENST00000495200.1:n.494T>A (HSPE1)
ENST00000604458.1:c.16T>A (HSPE1-MOB4)	ENSP00000474534.1:p.Phe6Ile
NM_001202485.1:c.16T>A (HSPE1-MOB4)	NP_001189414.1:p.Phe6Ile
NM_002157.2:c.16T>A (HSPE1)	NP_002148.1:p.Phe6Ile
NM_002157.3:c.16T>A (HSPE1) MANE Select	NP_002148.1:p.Phe6Ile
NM_001202485.2:c.16T>A (HSPE1-MOB4)	NP_001189414.1:p.Phe6Ile