Canonical Allele Identifier: CA4306442

Gene: HSPB1

Linked Data

• dbSNP Id: rs533051169
• ExAC: 7:75933427 C / G
• gnomAD v2: 7-75933427-C-G
• gnomAD v3: 7-76304110-C-G
• gnomAD v4: 7-76304110-C-G
• MyVariant Identifiers: chr7:g.75933427C>G (hg19) ; chr7:g.76304110C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304110C>G , CM000669.2:g.76304110C>G	GRCh38
NC_000007.13:g.75933427C>G , CM000669.1:g.75933427C>G	GRCh37
NC_000007.12:g.75771363C>G	NCBI36
NG_008995.1:g.6553C>G , LRG_248:g.6553C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.555C>G MANE Select	ENSP00000248553.6:p.Phe185Leu
ENST00000674547.1:c.*146C>G	ENSP00000502461.1:n.*146C>G
ENST00000674638.1:c.*76C>G	ENSP00000502651.1:n.*76C>G
ENST00000674650.1:c.*65C>G	ENSP00000501628.1:n.*65C>G
ENST00000674965.1:c.*211C>G	ENSP00000501765.1:n.*211C>G
ENST00000675134.1:c.534C>G	ENSP00000501831.1:p.Phe178Leu
ENST00000675226.1:c.*65C>G	ENSP00000502510.1:n.*65C>G
ENST00000675417.1:n.906C>G
ENST00000675538.1:c.*65C>G	ENSP00000502495.1:n.*65C>G
ENST00000675906.1:c.*140C>G	ENSP00000502714.1:n.*140C>G
ENST00000676231.1:c.585C>G	ENSP00000502249.1:p.Phe195Leu
ENST00000248553.6:c.555C>G	ENSP00000248553.6:p.Phe185Leu
ENST00000429938.1:c.51C>G	ENSP00000405285.1:p.Phe17Leu
ENST00000447574.1:c.*719C>G	ENSP00000414357.1:n.*719C>G
NM_001540.3:c.555C>G , LRG_248t1:c.555C>G	NP_001531.1:p.Phe185Leu
NM_001540.4:c.555C>G	NP_001531.1:p.Phe185Leu
NM_001540.5:c.555C>G MANE Select	NP_001531.1:p.Phe185Leu