Canonical Allele Identifier: CA2554519204

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303876G>C , CM000669.2:g.76303876G>C	GRCh38
NC_000007.13:g.75933193G>C , CM000669.1:g.75933193G>C	GRCh37
NC_000007.12:g.75771129G>C	NCBI36
NG_008995.1:g.6319G>C , LRG_248:g.6319G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+11G>C MANE Select	ENSP00000248553.6:n.428+11G>C
ENST00000674547.1:c.*7G>C	ENSP00000502461.1:n.*7G>C
ENST00000674638.1:c.423+11G>C	ENSP00000502651.1:n.423+11G>C
ENST00000674650.1:c.365-108G>C	ENSP00000501628.1:n.365-108G>C
ENST00000674965.1:c.*84+11G>C	ENSP00000501765.1:n.*84+11G>C
ENST00000675134.1:c.407+32G>C	ENSP00000501831.1:n.407+32G>C
ENST00000675226.1:c.427+11G>C	ENSP00000502510.1:n.427+11G>C
ENST00000675417.1:n.672G>C
ENST00000675538.1:c.463+11G>C	ENSP00000502495.1:n.463+11G>C
ENST00000675906.1:c.*7G>C	ENSP00000502714.1:n.*7G>C
ENST00000676231.1:c.458+11G>C	ENSP00000502249.1:n.458+11G>C
ENST00000248553.6:c.428+11G>C	ENSP00000248553.6:n.428+11G>C
ENST00000429938.1:c.-77+11G>C	ENSP00000405285.1:n.-77+11G>C
ENST00000447574.1:c.*592+11G>C	ENSP00000414357.1:n.*592+11G>C
NM_001540.3:c.428+11G>C , LRG_248t1:c.428+11G>C	NP_001531.1:n.428+11G>C
NM_001540.4:c.428+11G>C	NP_001531.1:n.428+11G>C
NM_001540.5:c.428+11G>C MANE Select	NP_001531.1:n.428+11G>C