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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA397105065
Gene: PIEZO1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr16:g.88793461G>T (hg19)
chr16:g.88727053G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.88727053G>T , CM000678.2:g.88727053G>T
GRCh38
NC_000016.9:g.88793461G>T , CM000678.1:g.88793461G>T
GRCh37
NC_000016.8:g.87320962G>T
NCBI36
NG_042229.1:g.63168C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000301015.14:c.3441C>A
MANE Select
ENSP00000301015.9:p.Asn1147Lys
ENST00000301015.13:c.3441C>A
ENSP00000301015.9:p.Asn1147Lys
NM_001142864.2:c.3441C>A
NP_001136336.2:p.Asn1147Lys
NM_001142864.3:c.3441C>A
NP_001136336.2:p.Asn1147Lys
NM_001142864.4:c.3441C>A
MANE Select
NP_001136336.2:p.Asn1147Lys
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