Canonical Allele Identifier: CA367763158

Gene: HSPB1

Linked Data

• dbSNP Id: rs1231796327
• gnomAD v4: 7-76302941-C-G
• MyVariant Identifiers: chr7:g.75932258C>G (hg19) ; chr7:g.76302941C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76302941C>G , CM000669.2:g.76302941C>G	GRCh38
NC_000007.13:g.75932258C>G , CM000669.1:g.75932258C>G	GRCh37
NC_000007.12:g.75770194C>G	NCBI36
NG_008995.1:g.5384C>G , LRG_248:g.5384C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.229C>G MANE Select	ENSP00000248553.6:p.Leu77Val
ENST00000674547.1:c.229C>G	ENSP00000502461.1:p.Leu77Val
ENST00000674560.1:n.269C>G
ENST00000674638.1:c.229C>G	ENSP00000502651.1:p.Leu77Val
ENST00000674650.1:c.229C>G	ENSP00000501628.1:p.Leu77Val
ENST00000674965.1:c.229C>G	ENSP00000501765.1:p.Leu77Val
ENST00000675134.1:c.229C>G	ENSP00000501831.1:p.Leu77Val
ENST00000675226.1:c.229C>G	ENSP00000502510.1:p.Leu77Val
ENST00000675488.1:n.269C>G
ENST00000675538.1:c.229C>G	ENSP00000502495.1:p.Leu77Val
ENST00000675624.1:n.269C>G
ENST00000675733.1:n.269C>G
ENST00000675906.1:c.229C>G	ENSP00000502714.1:p.Leu77Val
ENST00000676231.1:c.229C>G	ENSP00000502249.1:p.Leu77Val
ENST00000676398.1:n.269C>G
ENST00000248553.6:c.229C>G	ENSP00000248553.6:p.Leu77Val
ENST00000447574.1:c.229C>G	ENSP00000414357.1:p.Leu77Val
NM_001540.3:c.229C>G , LRG_248t1:c.229C>G	NP_001531.1:p.Leu77Val
NM_001540.4:c.229C>G	NP_001531.1:p.Leu77Val
NM_001540.5:c.229C>G MANE Select	NP_001531.1:p.Leu77Val