Canonical Allele Identifier: CA4306226

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 935489
• ClinVar RCV Id: RCV001204090
• dbSNP Id: rs200190722
• ExAC: 7:75932030 A / C
• gnomAD v2: 7-75932030-A-C
• gnomAD v3: 7-76302713-A-C
• gnomAD v4: 7-76302713-A-C
• MyVariant Identifiers: chr7:g.75932030A>C (hg19) ; chr7:g.76302713A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76302713A>C , CM000669.2:g.76302713A>C	GRCh38
NC_000007.13:g.75932030A>C , CM000669.1:g.75932030A>C	GRCh37
NC_000007.12:g.75769966A>C	NCBI36
NG_008995.1:g.5156A>C , LRG_248:g.5156A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.1A>C MANE Select	ENSP00000248553.6:p.Met1Leu
ENST00000674547.1:c.1A>C	ENSP00000502461.1:p.Met1Leu
ENST00000674560.1:n.41A>C
ENST00000674638.1:c.1A>C	ENSP00000502651.1:p.Met1Leu
ENST00000674650.1:c.1A>C	ENSP00000501628.1:p.Met1Leu
ENST00000674965.1:c.1A>C	ENSP00000501765.1:p.Met1Leu
ENST00000675134.1:c.1A>C	ENSP00000501831.1:p.Met1Leu
ENST00000675226.1:c.1A>C	ENSP00000502510.1:p.Met1Leu
ENST00000675488.1:n.41A>C
ENST00000675538.1:c.1A>C	ENSP00000502495.1:p.Met1Leu
ENST00000675624.1:n.41A>C
ENST00000675733.1:n.41A>C
ENST00000675906.1:c.1A>C	ENSP00000502714.1:p.Met1Leu
ENST00000676231.1:c.1A>C	ENSP00000502249.1:p.Met1Leu
ENST00000676398.1:n.41A>C
ENST00000248553.6:c.1A>C	ENSP00000248553.6:p.Met1Leu
ENST00000447574.1:c.1A>C	ENSP00000414357.1:p.Met1Leu
NM_001540.3:c.1A>C , LRG_248t1:c.1A>C	NP_001531.1:p.Met1Leu
NM_001540.4:c.1A>C	NP_001531.1:p.Met1Leu
NM_001540.5:c.1A>C MANE Select	NP_001531.1:p.Met1Leu