Canonical Allele Identifier: CA367766376

Gene: HSPB1

Linked Data

• dbSNP Id: rs1803072018
• MyVariant Identifiers: chr7:g.75933419G>C (hg19) ; chr7:g.76304102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304102G>C , CM000669.2:g.76304102G>C	GRCh38
NC_000007.13:g.75933419G>C , CM000669.1:g.75933419G>C	GRCh37
NC_000007.12:g.75771355G>C	NCBI36
NG_008995.1:g.6545G>C , LRG_248:g.6545G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.547G>C MANE Select	ENSP00000248553.6:p.Val183Leu
ENST00000674547.1:c.*138G>C	ENSP00000502461.1:n.*138G>C
ENST00000674638.1:c.*68G>C	ENSP00000502651.1:n.*68G>C
ENST00000674650.1:c.*57G>C	ENSP00000501628.1:n.*57G>C
ENST00000674965.1:c.*203G>C	ENSP00000501765.1:n.*203G>C
ENST00000675134.1:c.526G>C	ENSP00000501831.1:p.Val176Leu
ENST00000675226.1:c.*57G>C	ENSP00000502510.1:n.*57G>C
ENST00000675417.1:n.898G>C
ENST00000675538.1:c.*57G>C	ENSP00000502495.1:n.*57G>C
ENST00000675906.1:c.*132G>C	ENSP00000502714.1:n.*132G>C
ENST00000676231.1:c.577G>C	ENSP00000502249.1:p.Val193Leu
ENST00000248553.6:c.547G>C	ENSP00000248553.6:p.Val183Leu
ENST00000429938.1:c.43G>C	ENSP00000405285.1:p.Val15Leu
ENST00000447574.1:c.*711G>C	ENSP00000414357.1:n.*711G>C
NM_001540.3:c.547G>C , LRG_248t1:c.547G>C	NP_001531.1:p.Val183Leu
NM_001540.4:c.547G>C	NP_001531.1:p.Val183Leu
NM_001540.5:c.547G>C MANE Select	NP_001531.1:p.Val183Leu