Canonical Allele Identifier: CA367766405

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76304108-T-C
• MyVariant Identifiers: chr7:g.75933425T>C (hg19) ; chr7:g.76304108T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304108T>C , CM000669.2:g.76304108T>C	GRCh38
NC_000007.13:g.75933425T>C , CM000669.1:g.75933425T>C	GRCh37
NC_000007.12:g.75771361T>C	NCBI36
NG_008995.1:g.6551T>C , LRG_248:g.6551T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.553T>C MANE Select	ENSP00000248553.6:p.Phe185Leu
ENST00000674547.1:c.*144T>C	ENSP00000502461.1:n.*144T>C
ENST00000674638.1:c.*74T>C	ENSP00000502651.1:n.*74T>C
ENST00000674650.1:c.*63T>C	ENSP00000501628.1:n.*63T>C
ENST00000674965.1:c.*209T>C	ENSP00000501765.1:n.*209T>C
ENST00000675134.1:c.532T>C	ENSP00000501831.1:p.Phe178Leu
ENST00000675226.1:c.*63T>C	ENSP00000502510.1:n.*63T>C
ENST00000675417.1:n.904T>C
ENST00000675538.1:c.*63T>C	ENSP00000502495.1:n.*63T>C
ENST00000675906.1:c.*138T>C	ENSP00000502714.1:n.*138T>C
ENST00000676231.1:c.583T>C	ENSP00000502249.1:p.Phe195Leu
ENST00000248553.6:c.553T>C	ENSP00000248553.6:p.Phe185Leu
ENST00000429938.1:c.49T>C	ENSP00000405285.1:p.Phe17Leu
ENST00000447574.1:c.*717T>C	ENSP00000414357.1:n.*717T>C
NM_001540.3:c.553T>C , LRG_248t1:c.553T>C	NP_001531.1:p.Phe185Leu
NM_001540.4:c.553T>C	NP_001531.1:p.Phe185Leu
NM_001540.5:c.553T>C MANE Select	NP_001531.1:p.Phe185Leu