Canonical Allele Identifier: CA3724255
Gene: HSPA1A HGNC NCBI
HSPA1L HGNC NCBI
COSMIC:
COSM4160853 (not active)
MyVariant.info:
GRCh38 chr6:g.31816086G>C
GRCh37 chr6:g.31783863G>C
Revel Score:
ENST00000375651 (MANE Select) 0.111
ENST00000541556 0.111
gnomAD v2:
6:31783863 G / C
gnomAD v3:
6:31816086 G / C
gnomAD v4:
chr6-31816086-G-C
Joint Max Group AF 0.4104372 (AFR)
Genomes Max Group AF 0.36616884 (AFR)
Exomes Max Group AF 0.42635988 (AFR)
ClinVar RCV:
RCV000856574
ClinVar Variation:
694514
dbSNP:
562047
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31816086G>C , CM000668.2:g.31816086G>C GRCh38
NC_000006.11:g.31783863G>C , CM000668.1:g.31783863G>C GRCh37
NC_000006.10:g.31891842G>C NCBI36
NG_011855.1:g.3973C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375651.7:c.330G>C (HSPA1A) MANE Select ENSP00000364802.5:p.Glu110Asp
ENST00000375651.6:c.330G>C (HSPA1A) ENSP00000364802.5:p.Glu110Asp
ENST00000608703.1:c.76-241G>C (HSPA1A) ENSP00000477378.1:n.76-241G>C
NM_005345.5:c.330G>C (HSPA1A) NP_005336.3:p.Glu110Asp
XM_005249073.2:c.-13-4101C>G (HSPA1L) XP_005249130.1:n.-13-4101C>G
XM_011514566.1:c.-13-4101C>G (HSPA1L) XP_011512868.1:n.-13-4101C>G
NM_005345.6:c.330G>C (HSPA1A) MANE Select NP_005336.3:p.Glu110Asp
Search 100 bp 5'
Search 100 bp 3'