Canonical Allele Identifier: CA477385249

Gene: HSPA8

Linked Data

• dbSNP Id: rs536065122
• gnomAD v2: 11-122929164-A-G
• gnomAD v4: 11-123058456-A-G
• COSMIC: COSM5999877
• MyVariant Identifiers: chr11:g.122929164A>G (hg19) ; chr11:g.123058456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123058456A>G , CM000673.2:g.123058456A>G	GRCh38
NC_000011.9:g.122929164A>G , CM000673.1:g.122929164A>G	GRCh37
NC_000011.8:g.122434374A>G	NCBI36
NG_029473.1:g.8681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534624.6:c.1551T>C MANE Select	ENSP00000432083.1:p.Arg517=
ENST00000227378.7:c.1551T>C	ENSP00000227378.3:p.Arg517=
ENST00000453788.6:c.1387+311T>C	ENSP00000404372.2:n.1387+311T>C
ENST00000524552.5:c.324T>C	ENSP00000435908.1:p.Arg108=
ENST00000526110.5:c.1494T>C	ENSP00000433584.1:p.Arg498=
ENST00000526686.1:c.207T>C	ENSP00000435019.1:p.Arg69=
ENST00000532091.1:n.1673T>C
ENST00000532636.5:c.1551T>C	ENSP00000437125.1:p.Arg517=
ENST00000533540.5:c.1113T>C	ENSP00000437189.1:p.Arg371=
ENST00000534319.5:c.843T>C	ENSP00000433316.1:p.Arg281=
ENST00000534624.5:c.1551T>C	ENSP00000432083.1:p.Arg517=
NM_006597.5:c.1551T>C	NP_006588.1:p.Arg517=
NM_153201.3:c.1387+311T>C	NP_694881.1:n.1387+311T>C
XM_011542798.1:c.1551T>C	XP_011541100.1:p.Arg517=
NM_006597.6:c.1551T>C MANE Select	NP_006588.1:p.Arg517=
NM_153201.4:c.1387+311T>C	NP_694881.1:n.1387+311T>C