Canonical Allele Identifier: CA16285763
Gene: LPA HGNC NCBI
COSMIC:
COSN14778748 (not active)
MyVariant.info:
GRCh38 chr6:g.160553546G>A
GRCh37 chr6:g.160974578G>A
gnomAD v2:
6:160974578 G / A
gnomAD v3:
6:160553546 G / A
gnomAD v4:
chr6-160553546-G-A
Joint Max Group AF 0.19392582 (SAS)
Genomes Max Group AF 0.19392582 (SAS)
dbSNP:
12207195
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160553546G>A , CM000668.2:g.160553546G>A GRCh38
NC_000006.11:g.160974578G>A , CM000668.1:g.160974578G>A GRCh37
NC_000006.10:g.160894568G>A NCBI36
NG_016147.1:g.117830C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316300.10:c.4973+2479C>T MANE Select ENSP00000321334.6:n.4973+2479C>T
ENST00000316300.9:c.4973+2479C>T ENSP00000321334.5:n.4973+2479C>T
NM_005577.2:c.4973+2479C>T NP_005568.2:n.4973+2479C>T
NM_005577.3:c.4973+2479C>T NP_005568.2:n.4973+2479C>T
NM_005577.4:c.4973+2479C>T MANE Select NP_005568.2:n.4973+2479C>T
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