Canonical Allele Identifier: CA456330613

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76304101-A-C
• MyVariant Identifiers: chr7:g.75933418A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304101A>C , CM000669.2:g.76304101A>C	GRCh38
NC_000007.13:g.75933418A>C , CM000669.1:g.75933418A>C	GRCh37
NC_000007.12:g.75771354A>C	NCBI36
NG_008995.1:g.6544A>C , LRG_248:g.6544A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.546A>C MANE Select	ENSP00000248553.6:p.Pro182=
ENST00000674547.1:c.*137A>C	ENSP00000502461.1:n.*137A>C
ENST00000674638.1:c.*67A>C	ENSP00000502651.1:n.*67A>C
ENST00000674650.1:c.*56A>C	ENSP00000501628.1:n.*56A>C
ENST00000674965.1:c.*202A>C	ENSP00000501765.1:n.*202A>C
ENST00000675134.1:c.525A>C	ENSP00000501831.1:p.Pro175=
ENST00000675226.1:c.*56A>C	ENSP00000502510.1:n.*56A>C
ENST00000675417.1:n.897A>C
ENST00000675538.1:c.*56A>C	ENSP00000502495.1:n.*56A>C
ENST00000675906.1:c.*131A>C	ENSP00000502714.1:n.*131A>C
ENST00000676231.1:c.576A>C	ENSP00000502249.1:p.Pro192=
ENST00000248553.6:c.546A>C	ENSP00000248553.6:p.Pro182=
ENST00000429938.1:c.42A>C	ENSP00000405285.1:p.Pro14=
ENST00000447574.1:c.*710A>C	ENSP00000414357.1:n.*710A>C
NM_001540.3:c.546A>C , LRG_248t1:c.546A>C	NP_001531.1:p.Pro182=
NM_001540.4:c.546A>C	NP_001531.1:p.Pro182=
NM_001540.5:c.546A>C MANE Select	NP_001531.1:p.Pro182=