Canonical Allele Identifier: CA456330464

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933135G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303818G>T , CM000669.2:g.76303818G>T	GRCh38
NC_000007.13:g.75933135G>T , CM000669.1:g.75933135G>T	GRCh37
NC_000007.12:g.75771071G>T	NCBI36
NG_008995.1:g.6261G>T , LRG_248:g.6261G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.381G>T MANE Select	ENSP00000248553.6:p.Arg127=
ENST00000674547.1:c.381G>T	ENSP00000502461.1:p.Arg127=
ENST00000674638.1:c.376G>T	ENSP00000502651.1:p.Ala126Ser
ENST00000674650.1:c.365-166G>T	ENSP00000501628.1:n.365-166G>T
ENST00000674965.1:c.*37G>T	ENSP00000501765.1:n.*37G>T
ENST00000675134.1:c.381G>T	ENSP00000501831.1:p.Arg127=
ENST00000675226.1:c.380G>T	ENSP00000502510.1:p.Gly127Val
ENST00000675417.1:n.614G>T
ENST00000675538.1:c.416G>T	ENSP00000502495.1:p.Gly139Val
ENST00000675906.1:c.381G>T	ENSP00000502714.1:p.Arg127=
ENST00000676195.1:n.97G>T
ENST00000676231.1:c.411G>T	ENSP00000502249.1:p.Arg137=
ENST00000248553.6:c.381G>T	ENSP00000248553.6:p.Arg127=
ENST00000429938.1:c.-124G>T	ENSP00000405285.1:n.-124G>T
ENST00000447574.1:c.*545G>T	ENSP00000414357.1:n.*545G>T
NM_001540.3:c.381G>T , LRG_248t1:c.381G>T	NP_001531.1:p.Arg127=
NM_001540.4:c.381G>T	NP_001531.1:p.Arg127=
NM_001540.5:c.381G>T MANE Select	NP_001531.1:p.Arg127=