Canonical Allele Identifier: CA367765264

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933119G>C (hg19) ; chr7:g.76303802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303802G>C , CM000669.2:g.76303802G>C	GRCh38
NC_000007.13:g.75933119G>C , CM000669.1:g.75933119G>C	GRCh37
NC_000007.12:g.75771055G>C	NCBI36
NG_008995.1:g.6245G>C , LRG_248:g.6245G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365G>C MANE Select	ENSP00000248553.6:p.Gly122Ala
ENST00000674547.1:c.365G>C	ENSP00000502461.1:p.Gly122Ala
ENST00000674638.1:c.365-5G>C	ENSP00000502651.1:n.365-5G>C
ENST00000674650.1:c.365-182G>C	ENSP00000501628.1:n.365-182G>C
ENST00000674965.1:c.*21G>C	ENSP00000501765.1:n.*21G>C
ENST00000675134.1:c.365G>C	ENSP00000501831.1:p.Gly122Ala
ENST00000675226.1:c.369-5G>C	ENSP00000502510.1:n.369-5G>C
ENST00000675417.1:n.598G>C
ENST00000675538.1:c.400G>C	ENSP00000502495.1:p.Ala134Pro
ENST00000675906.1:c.365G>C	ENSP00000502714.1:p.Gly122Ala
ENST00000676195.1:n.81G>C
ENST00000676231.1:c.395G>C	ENSP00000502249.1:p.Gly132Ala
ENST00000248553.6:c.365G>C	ENSP00000248553.6:p.Gly122Ala
ENST00000429938.1:c.-140G>C	ENSP00000405285.1:n.-140G>C
ENST00000447574.1:c.*529G>C	ENSP00000414357.1:n.*529G>C
NM_001540.3:c.365G>C , LRG_248t1:c.365G>C	NP_001531.1:p.Gly122Ala
NM_001540.4:c.365G>C	NP_001531.1:p.Gly122Ala
NM_001540.5:c.365G>C MANE Select	NP_001531.1:p.Gly122Ala