Canonical Allele Identifier: CA4306447

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304122C>T , CM000669.2:g.76304122C>T	GRCh38
NC_000007.13:g.75933439C>T , CM000669.1:g.75933439C>T	GRCh37
NC_000007.12:g.75771375C>T	NCBI36
NG_008995.1:g.6565C>T , LRG_248:g.6565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.567C>T MANE Select	ENSP00000248553.6:p.Ala189=
ENST00000674547.1:c.*158C>T	ENSP00000502461.1:n.*158C>T
ENST00000674638.1:c.*88C>T	ENSP00000502651.1:n.*88C>T
ENST00000674650.1:c.*77C>T	ENSP00000501628.1:n.*77C>T
ENST00000674965.1:c.*223C>T	ENSP00000501765.1:n.*223C>T
ENST00000675134.1:c.546C>T	ENSP00000501831.1:p.Ala182=
ENST00000675226.1:c.*77C>T	ENSP00000502510.1:n.*77C>T
ENST00000675417.1:n.918C>T
ENST00000675538.1:c.*77C>T	ENSP00000502495.1:n.*77C>T
ENST00000675906.1:c.*152C>T	ENSP00000502714.1:n.*152C>T
ENST00000676231.1:c.597C>T	ENSP00000502249.1:p.Ala199=
ENST00000248553.6:c.567C>T	ENSP00000248553.6:p.Ala189=
ENST00000429938.1:c.63C>T	ENSP00000405285.1:p.Ala21=
ENST00000447574.1:c.*731C>T	ENSP00000414357.1:n.*731C>T
NM_001540.3:c.567C>T , LRG_248t1:c.567C>T	NP_001531.1:p.Ala189=
NM_001540.4:c.567C>T	NP_001531.1:p.Ala189=
NM_001540.5:c.567C>T MANE Select	NP_001531.1:p.Ala189=