Canonical Allele Identifier: CA350204927

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• MyVariant Identifiers: chr2:g.198365846G>T (hg19) ; chr2:g.197501122G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197501122G>T , CM000664.2:g.197501122G>T	GRCh38
NC_000002.11:g.198365846G>T , CM000664.1:g.198365846G>T	GRCh37
NC_000002.10:g.198074091G>T	NCBI36
NG_008914.1:g.6126G>T
NG_008915.1:g.4153C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233893.10:c.52G>T (HSPE1) MANE Select	ENSP00000233893.5:p.Val18Phe
ENST00000426480.2:c.-2-2272C>A (HSPD1)	ENSP00000414446.2:n.-2-2272C>A
ENST00000233893.9:c.52G>T (HSPE1)	ENSP00000233893.5:p.Val18Phe
ENST00000409468.1:c.52G>T (HSPE1)	ENSP00000386447.1:p.Val18Phe
ENST00000409729.1:c.3+683G>T (HSPE1)	ENSP00000387101.1:n.3+683G>T
ENST00000426480.1:c.125-2272C>A (HSPD1)	ENSP00000414446.1:n.125-2272C>A
ENST00000463841.1:n.241G>T (HSPE1)
ENST00000465573.1:n.376+204G>T (HSPE1)
ENST00000473395.1:n.140G>T (HSPE1)
ENST00000495200.1:n.530G>T (HSPE1)
ENST00000604458.1:c.52G>T (HSPE1-MOB4)	ENSP00000474534.1:p.Val18Phe
NM_001202485.1:c.52G>T (HSPE1-MOB4)	NP_001189414.1:p.Val18Phe
NM_002157.2:c.52G>T (HSPE1)	NP_002148.1:p.Val18Phe
NM_002157.3:c.52G>T (HSPE1) MANE Select	NP_002148.1:p.Val18Phe
NM_001202485.2:c.52G>T (HSPE1-MOB4)	NP_001189414.1:p.Val18Phe