Canonical Allele Identifier: CA367765552

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933173G>T (hg19) ; chr7:g.76303856G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303856G>T , CM000669.2:g.76303856G>T	GRCh38
NC_000007.13:g.75933173G>T , CM000669.1:g.75933173G>T	GRCh37
NC_000007.12:g.75771109G>T	NCBI36
NG_008995.1:g.6299G>T , LRG_248:g.6299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.419G>T MANE Select	ENSP00000248553.6:p.Arg140Leu
ENST00000674547.1:c.419G>T	ENSP00000502461.1:p.Arg140Leu
ENST00000674638.1:c.414G>T	ENSP00000502651.1:p.Ala138=
ENST00000674650.1:c.365-128G>T	ENSP00000501628.1:n.365-128G>T
ENST00000674965.1:c.*75G>T	ENSP00000501765.1:n.*75G>T
ENST00000675134.1:c.407+12G>T	ENSP00000501831.1:n.407+12G>T
ENST00000675226.1:c.418G>T	ENSP00000502510.1:p.Gly140Ter
ENST00000675417.1:n.652G>T
ENST00000675538.1:c.454G>T	ENSP00000502495.1:p.Gly152Ter
ENST00000675906.1:c.419G>T	ENSP00000502714.1:p.Arg140Leu
ENST00000676195.1:n.135G>T
ENST00000676231.1:c.449G>T	ENSP00000502249.1:p.Arg150Leu
ENST00000248553.6:c.419G>T	ENSP00000248553.6:p.Arg140Leu
ENST00000429938.1:c.-86G>T	ENSP00000405285.1:n.-86G>T
ENST00000447574.1:c.*583G>T	ENSP00000414357.1:n.*583G>T
NM_001540.3:c.419G>T , LRG_248t1:c.419G>T	NP_001531.1:p.Arg140Leu
NM_001540.4:c.419G>T	NP_001531.1:p.Arg140Leu
NM_001540.5:c.419G>T MANE Select	NP_001531.1:p.Arg140Leu