Canonical Allele Identifier: CA367765263

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 1969539
• ClinVar RCV Id: RCV002760171
• MyVariant Identifiers: chr7:g.75933119G>A (hg19) ; chr7:g.76303802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303802G>A , CM000669.2:g.76303802G>A	GRCh38
NC_000007.13:g.75933119G>A , CM000669.1:g.75933119G>A	GRCh37
NC_000007.12:g.75771055G>A	NCBI36
NG_008995.1:g.6245G>A , LRG_248:g.6245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365G>A MANE Select	ENSP00000248553.6:p.Gly122Asp
ENST00000674547.1:c.365G>A	ENSP00000502461.1:p.Gly122Asp
ENST00000674638.1:c.365-5G>A	ENSP00000502651.1:n.365-5G>A
ENST00000674650.1:c.365-182G>A	ENSP00000501628.1:n.365-182G>A
ENST00000674965.1:c.*21G>A	ENSP00000501765.1:n.*21G>A
ENST00000675134.1:c.365G>A	ENSP00000501831.1:p.Gly122Asp
ENST00000675226.1:c.369-5G>A	ENSP00000502510.1:n.369-5G>A
ENST00000675417.1:n.598G>A
ENST00000675538.1:c.400G>A	ENSP00000502495.1:p.Ala134Thr
ENST00000675906.1:c.365G>A	ENSP00000502714.1:p.Gly122Asp
ENST00000676195.1:n.81G>A
ENST00000676231.1:c.395G>A	ENSP00000502249.1:p.Gly132Asp
ENST00000248553.6:c.365G>A	ENSP00000248553.6:p.Gly122Asp
ENST00000429938.1:c.-140G>A	ENSP00000405285.1:n.-140G>A
ENST00000447574.1:c.*529G>A	ENSP00000414357.1:n.*529G>A
NM_001540.3:c.365G>A , LRG_248t1:c.365G>A	NP_001531.1:p.Gly122Asp
NM_001540.4:c.365G>A	NP_001531.1:p.Gly122Asp
NM_001540.5:c.365G>A MANE Select	NP_001531.1:p.Gly122Asp