Canonical Allele Identifier: CA575786712

Gene: HSPB1

Linked Data

• dbSNP Id: rs564183601
• gnomAD v2: 7-75932995-C-G
• gnomAD v3: 7-76303678-C-G
• gnomAD v4: 7-76303678-C-G
• MyVariant Identifiers: chr7:g.75932995C>G (hg19) ; chr7:g.76303678C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303678C>G , CM000669.2:g.76303678C>G	GRCh38
NC_000007.13:g.75932995C>G , CM000669.1:g.75932995C>G	GRCh37
NC_000007.12:g.75770931C>G	NCBI36
NG_008995.1:g.6121C>G , LRG_248:g.6121C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-124C>G MANE Select	ENSP00000248553.6:n.365-124C>G
ENST00000674547.1:c.365-124C>G	ENSP00000502461.1:n.365-124C>G
ENST00000674638.1:c.365-129C>G	ENSP00000502651.1:n.365-129C>G
ENST00000674650.1:c.365-306C>G	ENSP00000501628.1:n.365-306C>G
ENST00000674965.1:c.365-99C>G	ENSP00000501765.1:n.365-99C>G
ENST00000675134.1:c.365-124C>G	ENSP00000501831.1:n.365-124C>G
ENST00000675226.1:c.369-129C>G	ENSP00000502510.1:n.369-129C>G
ENST00000675417.1:n.474C>G
ENST00000675538.1:c.400-124C>G	ENSP00000502495.1:n.400-124C>G
ENST00000675733.1:n.405-84C>G
ENST00000675906.1:c.365-124C>G	ENSP00000502714.1:n.365-124C>G
ENST00000676195.1:n.80+22C>G
ENST00000676231.1:c.365-20C>G	ENSP00000502249.1:n.365-20C>G
ENST00000248553.6:c.365-124C>G	ENSP00000248553.6:n.365-124C>G
ENST00000429938.1:c.-190C>G	ENSP00000405285.1:n.-190C>G
ENST00000447574.1:c.*405C>G	ENSP00000414357.1:n.*405C>G
NM_001540.3:c.365-124C>G , LRG_248t1:c.365-124C>G	NP_001531.1:n.365-124C>G
NM_001540.4:c.365-124C>G	NP_001531.1:n.365-124C>G
NM_001540.5:c.365-124C>G MANE Select	NP_001531.1:n.365-124C>G