Canonical Allele Identifier: CA367765514

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933166T>C (hg19) ; chr7:g.76303849T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303849T>C , CM000669.2:g.76303849T>C	GRCh38
NC_000007.13:g.75933166T>C , CM000669.1:g.75933166T>C	GRCh37
NC_000007.12:g.75771102T>C	NCBI36
NG_008995.1:g.6292T>C , LRG_248:g.6292T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.412T>C MANE Select	ENSP00000248553.6:p.Phe138Leu
ENST00000674547.1:c.412T>C	ENSP00000502461.1:p.Phe138Leu
ENST00000674638.1:c.407T>C	ENSP00000502651.1:p.Leu136Pro
ENST00000674650.1:c.365-135T>C	ENSP00000501628.1:n.365-135T>C
ENST00000674965.1:c.*68T>C	ENSP00000501765.1:n.*68T>C
ENST00000675134.1:c.407+5T>C	ENSP00000501831.1:n.407+5T>C
ENST00000675226.1:c.411T>C	ENSP00000502510.1:p.Ala137=
ENST00000675417.1:n.645T>C
ENST00000675538.1:c.447T>C	ENSP00000502495.1:p.Ala149=
ENST00000675906.1:c.412T>C	ENSP00000502714.1:p.Phe138Leu
ENST00000676195.1:n.128T>C
ENST00000676231.1:c.442T>C	ENSP00000502249.1:p.Phe148Leu
ENST00000248553.6:c.412T>C	ENSP00000248553.6:p.Phe138Leu
ENST00000429938.1:c.-93T>C	ENSP00000405285.1:n.-93T>C
ENST00000447574.1:c.*576T>C	ENSP00000414357.1:n.*576T>C
NM_001540.3:c.412T>C , LRG_248t1:c.412T>C	NP_001531.1:p.Phe138Leu
NM_001540.4:c.412T>C	NP_001531.1:p.Phe138Leu
NM_001540.5:c.412T>C MANE Select	NP_001531.1:p.Phe138Leu