Canonical Allele Identifier: CA6332424

Gene: HSPA8

Linked Data

• dbSNP Id: rs771746646
• ExAC: 11:122929165 C / A
• gnomAD v2: 11-122929165-C-A
• gnomAD v3: 11-123058457-C-A
• gnomAD v4: 11-123058457-C-A
• MyVariant Identifiers: chr11:g.122929165C>A (hg19) ; chr11:g.123058457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123058457C>A , CM000673.2:g.123058457C>A	GRCh38
NC_000011.9:g.122929165C>A , CM000673.1:g.122929165C>A	GRCh37
NC_000011.8:g.122434375C>A	NCBI36
NG_029473.1:g.8680G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534624.6:c.1550G>T MANE Select	ENSP00000432083.1:p.Arg517Leu
ENST00000227378.7:c.1550G>T	ENSP00000227378.3:p.Arg517Leu
ENST00000453788.6:c.1387+310G>T	ENSP00000404372.2:n.1387+310G>T
ENST00000524552.5:c.323G>T	ENSP00000435908.1:p.Arg108Leu
ENST00000526110.5:c.1493G>T	ENSP00000433584.1:p.Arg498Leu
ENST00000526686.1:c.206G>T	ENSP00000435019.1:p.Arg69Leu
ENST00000532091.1:n.1672G>T
ENST00000532636.5:c.1550G>T	ENSP00000437125.1:p.Arg517Leu
ENST00000533540.5:c.1112G>T	ENSP00000437189.1:p.Arg371Leu
ENST00000534319.5:c.842G>T	ENSP00000433316.1:p.Arg281Leu
ENST00000534624.5:c.1550G>T	ENSP00000432083.1:p.Arg517Leu
NM_006597.5:c.1550G>T	NP_006588.1:p.Arg517Leu
NM_153201.3:c.1387+310G>T	NP_694881.1:n.1387+310G>T
XM_011542798.1:c.1550G>T	XP_011541100.1:p.Arg517Leu
NM_006597.6:c.1550G>T MANE Select	NP_006588.1:p.Arg517Leu
NM_153201.4:c.1387+310G>T	NP_694881.1:n.1387+310G>T