Canonical Allele Identifier: CA367765363

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933139G>T (hg19) ; chr7:g.76303822G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303822G>T , CM000669.2:g.76303822G>T	GRCh38
NC_000007.13:g.75933139G>T , CM000669.1:g.75933139G>T	GRCh37
NC_000007.12:g.75771075G>T	NCBI36
NG_008995.1:g.6265G>T , LRG_248:g.6265G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.385G>T MANE Select	ENSP00000248553.6:p.Asp129Tyr
ENST00000674547.1:c.385G>T	ENSP00000502461.1:p.Asp129Tyr
ENST00000674638.1:c.380G>T	ENSP00000502651.1:p.Gly127Val
ENST00000674650.1:c.365-162G>T	ENSP00000501628.1:n.365-162G>T
ENST00000674965.1:c.*41G>T	ENSP00000501765.1:n.*41G>T
ENST00000675134.1:c.385G>T	ENSP00000501831.1:p.Asp129Tyr
ENST00000675226.1:c.384G>T	ENSP00000502510.1:p.Arg128Ser
ENST00000675417.1:n.618G>T
ENST00000675538.1:c.420G>T	ENSP00000502495.1:p.Arg140Ser
ENST00000675906.1:c.385G>T	ENSP00000502714.1:p.Asp129Tyr
ENST00000676195.1:n.101G>T
ENST00000676231.1:c.415G>T	ENSP00000502249.1:p.Asp139Tyr
ENST00000248553.6:c.385G>T	ENSP00000248553.6:p.Asp129Tyr
ENST00000429938.1:c.-120G>T	ENSP00000405285.1:n.-120G>T
ENST00000447574.1:c.*549G>T	ENSP00000414357.1:n.*549G>T
NM_001540.3:c.385G>T , LRG_248t1:c.385G>T	NP_001531.1:p.Asp129Tyr
NM_001540.4:c.385G>T	NP_001531.1:p.Asp129Tyr
NM_001540.5:c.385G>T MANE Select	NP_001531.1:p.Asp129Tyr