Canonical Allele Identifier: CA367765558

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 637260
• ClinVar RCV Id: RCV000789333 ; RCV001869219
• dbSNP Id: rs1554614650
• MyVariant Identifiers: chr7:g.75933175A>C (hg19) ; chr7:g.76303858A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303858A>C , CM000669.2:g.76303858A>C	GRCh38
NC_000007.13:g.75933175A>C , CM000669.1:g.75933175A>C	GRCh37
NC_000007.12:g.75771111A>C	NCBI36
NG_008995.1:g.6301A>C , LRG_248:g.6301A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.421A>C MANE Select	ENSP00000248553.6:p.Lys141Gln
ENST00000674547.1:c.421A>C	ENSP00000502461.1:p.Lys141Gln
ENST00000674638.1:c.416A>C	ENSP00000502651.1:p.Glu139Ala
ENST00000674650.1:c.365-126A>C	ENSP00000501628.1:n.365-126A>C
ENST00000674965.1:c.*77A>C	ENSP00000501765.1:n.*77A>C
ENST00000675134.1:c.407+14A>C	ENSP00000501831.1:n.407+14A>C
ENST00000675226.1:c.420A>C	ENSP00000502510.1:p.Gly140=
ENST00000675417.1:n.654A>C
ENST00000675538.1:c.456A>C	ENSP00000502495.1:p.Gly152=
ENST00000675906.1:c.421A>C	ENSP00000502714.1:p.Lys141Gln
ENST00000676195.1:n.137A>C
ENST00000676231.1:c.451A>C	ENSP00000502249.1:p.Lys151Gln
ENST00000248553.6:c.421A>C	ENSP00000248553.6:p.Lys141Gln
ENST00000429938.1:c.-84A>C	ENSP00000405285.1:n.-84A>C
ENST00000447574.1:c.*585A>C	ENSP00000414357.1:n.*585A>C
NM_001540.3:c.421A>C , LRG_248t1:c.421A>C	NP_001531.1:p.Lys141Gln
NM_001540.4:c.421A>C	NP_001531.1:p.Lys141Gln
NM_001540.5:c.421A>C MANE Select	NP_001531.1:p.Lys141Gln