Canonical Allele Identifier: CA383058195

Gene: HSPA8

Linked Data

• dbSNP Id: rs2135441371
• gnomAD v4: 11-123059136-G-A
• COSMIC: COSM924149
• MyVariant Identifiers: chr11:g.122929844G>A (hg19) ; chr11:g.123059136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123059136G>A , CM000673.2:g.123059136G>A	GRCh38
NC_000011.9:g.122929844G>A , CM000673.1:g.122929844G>A	GRCh37
NC_000011.8:g.122435054G>A	NCBI36
NG_029473.1:g.8001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534624.6:c.1246C>T MANE Select	ENSP00000432083.1:p.Arg416Cys
ENST00000227378.7:c.1246C>T	ENSP00000227378.3:p.Arg416Cys
ENST00000453788.6:c.1246C>T	ENSP00000404372.2:p.Arg416Cys
ENST00000524552.5:c.19C>T	ENSP00000435908.1:p.Arg7Cys
ENST00000526110.5:c.1189C>T	ENSP00000433584.1:p.Arg397Cys
ENST00000532091.1:n.993C>T
ENST00000532636.5:c.1246C>T	ENSP00000437125.1:p.Arg416Cys
ENST00000533238.5:n.381-33C>T
ENST00000533540.5:c.808C>T	ENSP00000437189.1:p.Arg270Cys
ENST00000534319.5:c.538C>T	ENSP00000433316.1:p.Arg180Cys
ENST00000534624.5:c.1246C>T	ENSP00000432083.1:p.Arg416Cys
NM_006597.5:c.1246C>T	NP_006588.1:p.Arg416Cys
NM_153201.3:c.1246C>T	NP_694881.1:p.Arg416Cys
XM_011542798.1:c.1246C>T	XP_011541100.1:p.Arg416Cys
NM_006597.6:c.1246C>T MANE Select	NP_006588.1:p.Arg416Cys
NM_153201.4:c.1246C>T	NP_694881.1:p.Arg416Cys