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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:
CA366352319
Gene: LPA
HGNC
NCBI
Linked Data
gnomAD v4:
6-160548619-T-A
MyVariant Identifiers:
chr6:g.160969651T>A (hg19)
chr6:g.160548619T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160548619T>A , CM000668.2:g.160548619T>A
GRCh38
NC_000006.11:g.160969651T>A , CM000668.1:g.160969651T>A
GRCh37
NC_000006.10:g.160889641T>A
NCBI36
NG_016147.1:g.122757A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000316300.10:c.5014A>T
MANE Select
ENSP00000321334.6:p.Thr1672Ser
ENST00000316300.9:c.5014A>T
ENSP00000321334.5:p.Thr1672Ser
NM_005577.2:c.5014A>T
NP_005568.2:p.Thr1672Ser
NM_005577.3:c.5014A>T
NP_005568.2:p.Thr1672Ser
NM_005577.4:c.5014A>T
MANE Select
NP_005568.2:p.Thr1672Ser
Search 100 bp 5'
Search 100 bp 3'