Canonical Allele Identifier: CA367765487

Gene: HSPB1

Linked Data

• dbSNP Id: rs863225022
• gnomAD v2: 7-75933161-G-C
• gnomAD v3: 7-76303844-G-C
• gnomAD v4: 7-76303844-G-C
• MyVariant Identifiers: chr7:g.75933161G>C (hg19) ; chr7:g.76303844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303844G>C , CM000669.2:g.76303844G>C	GRCh38
NC_000007.13:g.75933161G>C , CM000669.1:g.75933161G>C	GRCh37
NC_000007.12:g.75771097G>C	NCBI36
NG_008995.1:g.6287G>C , LRG_248:g.6287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.407G>C MANE Select	ENSP00000248553.6:p.Arg136Pro
ENST00000674547.1:c.407G>C	ENSP00000502461.1:p.Arg136Pro
ENST00000674638.1:c.402G>C	ENSP00000502651.1:p.Pro134=
ENST00000674650.1:c.365-140G>C	ENSP00000501628.1:n.365-140G>C
ENST00000674965.1:c.*63G>C	ENSP00000501765.1:n.*63G>C
ENST00000675134.1:c.407G>C	ENSP00000501831.1:p.Arg136Pro
ENST00000675226.1:c.406G>C	ENSP00000502510.1:p.Gly136Arg
ENST00000675417.1:n.640G>C
ENST00000675538.1:c.442G>C	ENSP00000502495.1:p.Gly148Arg
ENST00000675906.1:c.407G>C	ENSP00000502714.1:p.Arg136Pro
ENST00000676195.1:n.123G>C
ENST00000676231.1:c.437G>C	ENSP00000502249.1:p.Arg146Pro
ENST00000248553.6:c.407G>C	ENSP00000248553.6:p.Arg136Pro
ENST00000429938.1:c.-98G>C	ENSP00000405285.1:n.-98G>C
ENST00000447574.1:c.*571G>C	ENSP00000414357.1:n.*571G>C
NM_001540.3:c.407G>C , LRG_248t1:c.407G>C	NP_001531.1:p.Arg136Pro
NM_001540.4:c.407G>C	NP_001531.1:p.Arg136Pro
NM_001540.5:c.407G>C MANE Select	NP_001531.1:p.Arg136Pro