Canonical Allele Identifier: CA2683408037

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303700-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303700T>C , CM000669.2:g.76303700T>C	GRCh38
NC_000007.13:g.75933017T>C , CM000669.1:g.75933017T>C	GRCh37
NC_000007.12:g.75770953T>C	NCBI36
NG_008995.1:g.6143T>C , LRG_248:g.6143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-102T>C MANE Select	ENSP00000248553.6:n.365-102T>C
ENST00000674547.1:c.365-102T>C	ENSP00000502461.1:n.365-102T>C
ENST00000674638.1:c.365-107T>C	ENSP00000502651.1:n.365-107T>C
ENST00000674650.1:c.365-284T>C	ENSP00000501628.1:n.365-284T>C
ENST00000674965.1:c.365-77T>C	ENSP00000501765.1:n.365-77T>C
ENST00000675134.1:c.365-102T>C	ENSP00000501831.1:n.365-102T>C
ENST00000675226.1:c.369-107T>C	ENSP00000502510.1:n.369-107T>C
ENST00000675417.1:n.496T>C
ENST00000675538.1:c.400-102T>C	ENSP00000502495.1:n.400-102T>C
ENST00000675733.1:n.405-62T>C
ENST00000675906.1:c.365-102T>C	ENSP00000502714.1:n.365-102T>C
ENST00000676195.1:n.80+44T>C
ENST00000676231.1:c.367T>C	ENSP00000502249.1:p.Cys123Arg
ENST00000248553.6:c.365-102T>C	ENSP00000248553.6:n.365-102T>C
ENST00000429938.1:c.-168T>C	ENSP00000405285.1:n.-168T>C
ENST00000447574.1:c.*427T>C	ENSP00000414357.1:n.*427T>C
NM_001540.3:c.365-102T>C , LRG_248t1:c.365-102T>C	NP_001531.1:n.365-102T>C
NM_001540.4:c.365-102T>C	NP_001531.1:n.365-102T>C
NM_001540.5:c.365-102T>C MANE Select	NP_001531.1:n.365-102T>C