Canonical Allele Identifier: CA456330524

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933162G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303845G>T , CM000669.2:g.76303845G>T	GRCh38
NC_000007.13:g.75933162G>T , CM000669.1:g.75933162G>T	GRCh37
NC_000007.12:g.75771098G>T	NCBI36
NG_008995.1:g.6288G>T , LRG_248:g.6288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.408G>T MANE Select	ENSP00000248553.6:p.Arg136=
ENST00000674547.1:c.408G>T	ENSP00000502461.1:p.Arg136=
ENST00000674638.1:c.403G>T	ENSP00000502651.1:p.Val135Leu
ENST00000674650.1:c.365-139G>T	ENSP00000501628.1:n.365-139G>T
ENST00000674965.1:c.*64G>T	ENSP00000501765.1:n.*64G>T
ENST00000675134.1:c.407+1G>T	ENSP00000501831.1:n.407+1G>T
ENST00000675226.1:c.407G>T	ENSP00000502510.1:p.Gly136Val
ENST00000675417.1:n.641G>T
ENST00000675538.1:c.443G>T	ENSP00000502495.1:p.Gly148Val
ENST00000675906.1:c.408G>T	ENSP00000502714.1:p.Arg136=
ENST00000676195.1:n.124G>T
ENST00000676231.1:c.438G>T	ENSP00000502249.1:p.Arg146=
ENST00000248553.6:c.408G>T	ENSP00000248553.6:p.Arg136=
ENST00000429938.1:c.-97G>T	ENSP00000405285.1:n.-97G>T
ENST00000447574.1:c.*572G>T	ENSP00000414357.1:n.*572G>T
NM_001540.3:c.408G>T , LRG_248t1:c.408G>T	NP_001531.1:p.Arg136=
NM_001540.4:c.408G>T	NP_001531.1:p.Arg136=
NM_001540.5:c.408G>T MANE Select	NP_001531.1:p.Arg136=