Canonical Allele Identifier: CA367765523

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933167T>C (hg19) ; chr7:g.76303850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303850T>C , CM000669.2:g.76303850T>C	GRCh38
NC_000007.13:g.75933167T>C , CM000669.1:g.75933167T>C	GRCh37
NC_000007.12:g.75771103T>C	NCBI36
NG_008995.1:g.6293T>C , LRG_248:g.6293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.413T>C MANE Select	ENSP00000248553.6:p.Phe138Ser
ENST00000674547.1:c.413T>C	ENSP00000502461.1:p.Phe138Ser
ENST00000674638.1:c.408T>C	ENSP00000502651.1:p.Leu136=
ENST00000674650.1:c.365-134T>C	ENSP00000501628.1:n.365-134T>C
ENST00000674965.1:c.*69T>C	ENSP00000501765.1:n.*69T>C
ENST00000675134.1:c.407+6T>C	ENSP00000501831.1:n.407+6T>C
ENST00000675226.1:c.412T>C	ENSP00000502510.1:p.Ser138Pro
ENST00000675417.1:n.646T>C
ENST00000675538.1:c.448T>C	ENSP00000502495.1:p.Ser150Pro
ENST00000675906.1:c.413T>C	ENSP00000502714.1:p.Phe138Ser
ENST00000676195.1:n.129T>C
ENST00000676231.1:c.443T>C	ENSP00000502249.1:p.Phe148Ser
ENST00000248553.6:c.413T>C	ENSP00000248553.6:p.Phe138Ser
ENST00000429938.1:c.-92T>C	ENSP00000405285.1:n.-92T>C
ENST00000447574.1:c.*577T>C	ENSP00000414357.1:n.*577T>C
NM_001540.3:c.413T>C , LRG_248t1:c.413T>C	NP_001531.1:p.Phe138Ser
NM_001540.4:c.413T>C	NP_001531.1:p.Phe138Ser
NM_001540.5:c.413T>C MANE Select	NP_001531.1:p.Phe138Ser