Canonical Allele Identifier: CA4306219

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 381810
• ClinVar RCV Id: RCV000426106 ; RCV001172545 ; RCV003278799
• dbSNP Id: rs756260929
• ExAC: 7:75932015 G / A
• gnomAD v2: 7-75932015-G-A
• gnomAD v3: 7-76302698-G-A
• gnomAD v4: 7-76302698-G-A
• MyVariant Identifiers: chr7:g.75932015G>A (hg19) ; chr7:g.76302698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76302698G>A , CM000669.2:g.76302698G>A	GRCh38
NC_000007.13:g.75932015G>A , CM000669.1:g.75932015G>A	GRCh37
NC_000007.12:g.75769951G>A	NCBI36
NG_008995.1:g.5141G>A , LRG_248:g.5141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.-15G>A MANE Select	ENSP00000248553.6:n.-15G>A
ENST00000674547.1:c.-15G>A	ENSP00000502461.1:n.-15G>A
ENST00000674560.1:n.26G>A
ENST00000674638.1:c.-15G>A	ENSP00000502651.1:n.-15G>A
ENST00000674965.1:c.-15G>A	ENSP00000501765.1:n.-15G>A
ENST00000675134.1:c.-15G>A	ENSP00000501831.1:n.-15G>A
ENST00000675226.1:c.-15G>A	ENSP00000502510.1:n.-15G>A
ENST00000675488.1:n.26G>A
ENST00000675538.1:c.-15G>A	ENSP00000502495.1:n.-15G>A
ENST00000675624.1:n.26G>A
ENST00000675733.1:n.26G>A
ENST00000675906.1:c.-15G>A	ENSP00000502714.1:n.-15G>A
ENST00000676231.1:c.-15G>A	ENSP00000502249.1:n.-15G>A
ENST00000676398.1:n.26G>A
ENST00000248553.6:c.-15G>A	ENSP00000248553.6:n.-15G>A
ENST00000447574.1:c.-15G>A	ENSP00000414357.1:n.-15G>A
NM_001540.3:c.-15G>A , LRG_248t1:c.-15G>A	NP_001531.1:n.-15G>A
NM_001540.4:c.-15G>A	NP_001531.1:n.-15G>A
NM_001540.5:c.-15G>A MANE Select	NP_001531.1:n.-15G>A