Canonical Allele Identifier: CA160900874

Gene: HSPB1

Linked Data

• dbSNP Id: rs951056394
• gnomAD v4: 7-76303687-A-C
• MyVariant Identifiers: chr7:g.75933004A>C (hg19) ; chr7:g.76303687A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303687A>C , CM000669.2:g.76303687A>C	GRCh38
NC_000007.13:g.75933004A>C , CM000669.1:g.75933004A>C	GRCh37
NC_000007.12:g.75770940A>C	NCBI36
NG_008995.1:g.6130A>C , LRG_248:g.6130A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-115A>C MANE Select	ENSP00000248553.6:n.365-115A>C
ENST00000674547.1:c.365-115A>C	ENSP00000502461.1:n.365-115A>C
ENST00000674638.1:c.365-120A>C	ENSP00000502651.1:n.365-120A>C
ENST00000674650.1:c.365-297A>C	ENSP00000501628.1:n.365-297A>C
ENST00000674965.1:c.365-90A>C	ENSP00000501765.1:n.365-90A>C
ENST00000675134.1:c.365-115A>C	ENSP00000501831.1:n.365-115A>C
ENST00000675226.1:c.369-120A>C	ENSP00000502510.1:n.369-120A>C
ENST00000675417.1:n.483A>C
ENST00000675538.1:c.400-115A>C	ENSP00000502495.1:n.400-115A>C
ENST00000675733.1:n.405-75A>C
ENST00000675906.1:c.365-115A>C	ENSP00000502714.1:n.365-115A>C
ENST00000676195.1:n.80+31A>C
ENST00000676231.1:c.365-11A>C	ENSP00000502249.1:n.365-11A>C
ENST00000248553.6:c.365-115A>C	ENSP00000248553.6:n.365-115A>C
ENST00000429938.1:c.-181A>C	ENSP00000405285.1:n.-181A>C
ENST00000447574.1:c.*414A>C	ENSP00000414357.1:n.*414A>C
NM_001540.3:c.365-115A>C , LRG_248t1:c.365-115A>C	NP_001531.1:n.365-115A>C
NM_001540.4:c.365-115A>C	NP_001531.1:n.365-115A>C
NM_001540.5:c.365-115A>C MANE Select	NP_001531.1:n.365-115A>C