Canonical Allele Identifier: CA367765580

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933178T>G (hg19) ; chr7:g.76303861T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303861T>G , CM000669.2:g.76303861T>G	GRCh38
NC_000007.13:g.75933178T>G , CM000669.1:g.75933178T>G	GRCh37
NC_000007.12:g.75771114T>G	NCBI36
NG_008995.1:g.6304T>G , LRG_248:g.6304T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.424T>G MANE Select	ENSP00000248553.6:p.Tyr142Asp
ENST00000674547.1:c.424T>G	ENSP00000502461.1:p.Tyr142Asp
ENST00000674638.1:c.419T>G	ENSP00000502651.1:p.Ile140Arg
ENST00000674650.1:c.365-123T>G	ENSP00000501628.1:n.365-123T>G
ENST00000674965.1:c.*80T>G	ENSP00000501765.1:n.*80T>G
ENST00000675134.1:c.407+17T>G	ENSP00000501831.1:n.407+17T>G
ENST00000675226.1:c.423T>G	ENSP00000502510.1:p.Asn141Lys
ENST00000675417.1:n.657T>G
ENST00000675538.1:c.459T>G	ENSP00000502495.1:p.Asn153Lys
ENST00000675906.1:c.424T>G	ENSP00000502714.1:p.Tyr142Asp
ENST00000676195.1:n.140T>G
ENST00000676231.1:c.454T>G	ENSP00000502249.1:p.Tyr152Asp
ENST00000248553.6:c.424T>G	ENSP00000248553.6:p.Tyr142Asp
ENST00000429938.1:c.-81T>G	ENSP00000405285.1:n.-81T>G
ENST00000447574.1:c.*588T>G	ENSP00000414357.1:n.*588T>G
NM_001540.3:c.424T>G , LRG_248t1:c.424T>G	NP_001531.1:p.Tyr142Asp
NM_001540.4:c.424T>G	NP_001531.1:p.Tyr142Asp
NM_001540.5:c.424T>G MANE Select	NP_001531.1:p.Tyr142Asp