Canonical Allele Identifier: CA363420140
Gene: HSPA1A HGNC NCBI
HSPA1L HGNC NCBI

Linked Data

dbSNP Id: rs1331268437
gnomAD v2: 6-31785082-C-T
gnomAD v3: 6-31817305-C-T
gnomAD v4: 6-31817305-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31817305C>T , CM000668.2:g.31817305C>T GRCh38
NC_000006.11:g.31785082C>T , CM000668.1:g.31785082C>T GRCh37
NC_000006.10:g.31893061C>T NCBI36
NG_011855.1:g.2754G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375651.7:c.1549C>T (HSPA1A) MANE Select ENSP00000364802.5:p.Arg517Cys
ENST00000375651.6:c.1549C>T (HSPA1A) ENSP00000364802.5:p.Arg517Cys
ENST00000608703.1:c.1054C>T (HSPA1A) ENSP00000477378.1:p.Arg352Cys
NM_005345.5:c.1549C>T (HSPA1A) NP_005336.3:p.Arg517Cys
XM_005249073.2:c.-14+3708G>A (HSPA1L) XP_005249130.1:n.-14+3708G>A
XM_011514566.1:c.-14+3708G>A (HSPA1L) XP_011512868.1:n.-14+3708G>A
NM_005345.6:c.1549C>T (HSPA1A) MANE Select NP_005336.3:p.Arg517Cys