Canonical Allele Identifier: CA62862000

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• dbSNP Id: rs1016179427
• gnomAD v4: 2-197501107-T-C
• MyVariant Identifiers: chr2:g.198365831T>C (hg19) ; chr2:g.197501107T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197501107T>C , CM000664.2:g.197501107T>C	GRCh38
NC_000002.11:g.198365831T>C , CM000664.1:g.198365831T>C	GRCh37
NC_000002.10:g.198074076T>C	NCBI36
NG_008914.1:g.6111T>C
NG_008915.1:g.4168A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233893.10:c.37T>C (HSPE1) MANE Select	ENSP00000233893.5:p.Phe13Leu
ENST00000426480.2:c.-2-2257A>G (HSPD1)	ENSP00000414446.2:n.-2-2257A>G
ENST00000233893.9:c.37T>C (HSPE1)	ENSP00000233893.5:p.Phe13Leu
ENST00000409468.1:c.37T>C (HSPE1)	ENSP00000386447.1:p.Phe13Leu
ENST00000409729.1:c.3+668T>C (HSPE1)	ENSP00000387101.1:n.3+668T>C
ENST00000426480.1:c.125-2257A>G (HSPD1)	ENSP00000414446.1:n.125-2257A>G
ENST00000463841.1:n.226T>C (HSPE1)
ENST00000465573.1:n.376+189T>C (HSPE1)
ENST00000473395.1:n.125T>C (HSPE1)
ENST00000495200.1:n.515T>C (HSPE1)
ENST00000604458.1:c.37T>C (HSPE1-MOB4)	ENSP00000474534.1:p.Phe13Leu
NM_001202485.1:c.37T>C (HSPE1-MOB4)	NP_001189414.1:p.Phe13Leu
NM_002157.2:c.37T>C (HSPE1)	NP_002148.1:p.Phe13Leu
NM_002157.3:c.37T>C (HSPE1) MANE Select	NP_002148.1:p.Phe13Leu
NM_001202485.2:c.37T>C (HSPE1-MOB4)	NP_001189414.1:p.Phe13Leu