Canonical Allele Identifier: CA3723944
Gene: HSPA1L HGNC NCBI
COSMIC:
COSM1443366 (not active)
MyVariant.info:
GRCh38 chr6:g.31810752C>T
GRCh37 chr6:g.31778529C>T
gnomAD v2:
6:31778529 C / T
gnomAD v3:
6:31810752 C / T
gnomAD v4:
chr6-31810752-C-T
Joint Max Group AF 0.21337545 (AFR)
Genomes Max Group AF 0.21076772 (AFR)
Exomes Max Group AF 0.21403655 (AFR)
ClinVar RCV:
RCV003979780
ClinVar Variation:
3059212
dbSNP:
2075799
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31810752C>T , CM000668.2:g.31810752C>T GRCh38
NC_000006.11:g.31778529C>T , CM000668.1:g.31778529C>T GRCh37
NC_000006.10:g.31886508C>T NCBI36
NG_011855.1:g.9307G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375654.5:c.1221G>A MANE Select ENSP00000364805.4:p.Thr407=
ENST00000375654.4:c.1221G>A ENSP00000364805.4:p.Thr407=
NM_005527.3:c.1221G>A NP_005518.3:p.Thr407=
XM_005249070.3:c.1413G>A XP_005249127.1:p.Thr471=
XM_005249071.1:c.1221G>A XP_005249128.1:p.Thr407=
XM_005249073.2:c.1221G>A XP_005249130.1:p.Thr407=
XM_011514566.1:c.1221G>A XP_011512868.1:p.Thr407=
NM_005527.4:c.1221G>A MANE Select NP_005518.3:p.Thr407=
Search 100 bp 5'
Search 100 bp 3'