Canonical Allele Identifier: CA350204897

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• MyVariant Identifiers: chr2:g.198365833T>A (hg19) ; chr2:g.197501109T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197501109T>A , CM000664.2:g.197501109T>A	GRCh38
NC_000002.11:g.198365833T>A , CM000664.1:g.198365833T>A	GRCh37
NC_000002.10:g.198074078T>A	NCBI36
NG_008914.1:g.6113T>A
NG_008915.1:g.4166A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233893.10:c.39T>A (HSPE1) MANE Select	ENSP00000233893.5:p.Phe13Leu
ENST00000426480.2:c.-2-2259A>T (HSPD1)	ENSP00000414446.2:n.-2-2259A>T
ENST00000233893.9:c.39T>A (HSPE1)	ENSP00000233893.5:p.Phe13Leu
ENST00000409468.1:c.39T>A (HSPE1)	ENSP00000386447.1:p.Phe13Leu
ENST00000409729.1:c.3+670T>A (HSPE1)	ENSP00000387101.1:n.3+670T>A
ENST00000426480.1:c.125-2259A>T (HSPD1)	ENSP00000414446.1:n.125-2259A>T
ENST00000463841.1:n.228T>A (HSPE1)
ENST00000465573.1:n.376+191T>A (HSPE1)
ENST00000473395.1:n.127T>A (HSPE1)
ENST00000495200.1:n.517T>A (HSPE1)
ENST00000604458.1:c.39T>A (HSPE1-MOB4)	ENSP00000474534.1:p.Phe13Leu
NM_001202485.1:c.39T>A (HSPE1-MOB4)	NP_001189414.1:p.Phe13Leu
NM_002157.2:c.39T>A (HSPE1)	NP_002148.1:p.Phe13Leu
NM_002157.3:c.39T>A (HSPE1) MANE Select	NP_002148.1:p.Phe13Leu
NM_001202485.2:c.39T>A (HSPE1-MOB4)	NP_001189414.1:p.Phe13Leu