Canonical Allele Identifier: CA367765457

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303838-T-C
• MyVariant Identifiers: chr7:g.75933155T>C (hg19) ; chr7:g.76303838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303838T>C , CM000669.2:g.76303838T>C	GRCh38
NC_000007.13:g.75933155T>C , CM000669.1:g.75933155T>C	GRCh37
NC_000007.12:g.75771091T>C	NCBI36
NG_008995.1:g.6281T>C , LRG_248:g.6281T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.401T>C MANE Select	ENSP00000248553.6:p.Ile134Thr
ENST00000674547.1:c.401T>C	ENSP00000502461.1:p.Ile134Thr
ENST00000674638.1:c.396T>C	ENSP00000502651.1:p.His132=
ENST00000674650.1:c.365-146T>C	ENSP00000501628.1:n.365-146T>C
ENST00000674965.1:c.*57T>C	ENSP00000501765.1:n.*57T>C
ENST00000675134.1:c.401T>C	ENSP00000501831.1:p.Ile134Thr
ENST00000675226.1:c.400T>C	ENSP00000502510.1:p.Ser134Pro
ENST00000675417.1:n.634T>C
ENST00000675538.1:c.436T>C	ENSP00000502495.1:p.Ser146Pro
ENST00000675906.1:c.401T>C	ENSP00000502714.1:p.Ile134Thr
ENST00000676195.1:n.117T>C
ENST00000676231.1:c.431T>C	ENSP00000502249.1:p.Ile144Thr
ENST00000248553.6:c.401T>C	ENSP00000248553.6:p.Ile134Thr
ENST00000429938.1:c.-104T>C	ENSP00000405285.1:n.-104T>C
ENST00000447574.1:c.*565T>C	ENSP00000414357.1:n.*565T>C
NM_001540.3:c.401T>C , LRG_248t1:c.401T>C	NP_001531.1:p.Ile134Thr
NM_001540.4:c.401T>C	NP_001531.1:p.Ile134Thr
NM_001540.5:c.401T>C MANE Select	NP_001531.1:p.Ile134Thr