Canonical Allele Identifier: CA367765368

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933140A>G (hg19) ; chr7:g.76303823A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303823A>G , CM000669.2:g.76303823A>G	GRCh38
NC_000007.13:g.75933140A>G , CM000669.1:g.75933140A>G	GRCh37
NC_000007.12:g.75771076A>G	NCBI36
NG_008995.1:g.6266A>G , LRG_248:g.6266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.386A>G MANE Select	ENSP00000248553.6:p.Asp129Gly
ENST00000674547.1:c.386A>G	ENSP00000502461.1:p.Asp129Gly
ENST00000674638.1:c.381A>G	ENSP00000502651.1:p.Gly127=
ENST00000674650.1:c.365-161A>G	ENSP00000501628.1:n.365-161A>G
ENST00000674965.1:c.*42A>G	ENSP00000501765.1:n.*42A>G
ENST00000675134.1:c.386A>G	ENSP00000501831.1:p.Asp129Gly
ENST00000675226.1:c.385A>G	ENSP00000502510.1:p.Thr129Ala
ENST00000675417.1:n.619A>G
ENST00000675538.1:c.421A>G	ENSP00000502495.1:p.Thr141Ala
ENST00000675906.1:c.386A>G	ENSP00000502714.1:p.Asp129Gly
ENST00000676195.1:n.102A>G
ENST00000676231.1:c.416A>G	ENSP00000502249.1:p.Asp139Gly
ENST00000248553.6:c.386A>G	ENSP00000248553.6:p.Asp129Gly
ENST00000429938.1:c.-119A>G	ENSP00000405285.1:n.-119A>G
ENST00000447574.1:c.*550A>G	ENSP00000414357.1:n.*550A>G
NM_001540.3:c.386A>G , LRG_248t1:c.386A>G	NP_001531.1:p.Asp129Gly
NM_001540.4:c.386A>G	NP_001531.1:p.Asp129Gly
NM_001540.5:c.386A>G MANE Select	NP_001531.1:p.Asp129Gly