Canonical Allele Identifier: CA2683408975

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303918-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303918G>T , CM000669.2:g.76303918G>T	GRCh38
NC_000007.13:g.75933235G>T , CM000669.1:g.75933235G>T	GRCh37
NC_000007.12:g.75771171G>T	NCBI36
NG_008995.1:g.6361G>T , LRG_248:g.6361G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+53G>T MANE Select	ENSP00000248553.6:n.428+53G>T
ENST00000674547.1:c.*19+30G>T	ENSP00000502461.1:n.*19+30G>T
ENST00000674638.1:c.423+53G>T	ENSP00000502651.1:n.423+53G>T
ENST00000674650.1:c.365-66G>T	ENSP00000501628.1:n.365-66G>T
ENST00000674965.1:c.*84+53G>T	ENSP00000501765.1:n.*84+53G>T
ENST00000675134.1:c.408-66G>T	ENSP00000501831.1:n.408-66G>T
ENST00000675226.1:c.427+53G>T	ENSP00000502510.1:n.427+53G>T
ENST00000675417.1:n.714G>T
ENST00000675538.1:c.463+53G>T	ENSP00000502495.1:n.463+53G>T
ENST00000675906.1:c.*13+36G>T	ENSP00000502714.1:n.*13+36G>T
ENST00000676231.1:c.458+53G>T	ENSP00000502249.1:n.458+53G>T
ENST00000248553.6:c.428+53G>T	ENSP00000248553.6:n.428+53G>T
ENST00000429938.1:c.-77+53G>T	ENSP00000405285.1:n.-77+53G>T
ENST00000447574.1:c.*592+53G>T	ENSP00000414357.1:n.*592+53G>T
NM_001540.3:c.428+53G>T , LRG_248t1:c.428+53G>T	NP_001531.1:n.428+53G>T
NM_001540.4:c.428+53G>T	NP_001531.1:n.428+53G>T
NM_001540.5:c.428+53G>T MANE Select	NP_001531.1:n.428+53G>T