Canonical Allele Identifier: CA622937060
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1188151330
gnomAD v2: 16-67974738-C-CAA
gnomAD v3: 16-67940835-C-CAA
gnomAD v4: 16-67940835-C-CAA
MyVariant Identifiers: chr16:g.67974741_67974742insAA (hg19) chr16:g.67974740_67974741insAA (hg19) chr16:g.67974738_67974739insAA (hg19) chr16:g.67940837_67940838insAA (hg38) chr16:g.67940835_67940836insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940854_67940855dup , CM000678.2:g.67940854_67940855dup GRCh38
NC_000016.9:g.67974757_67974758dup , CM000678.1:g.67974757_67974758dup GRCh37
NC_000016.8:g.66532258_66532259dup NCBI36
NG_009778.1:g.8276_8277dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-359_749-358dup MANE Select ENSP00000264005.5:n.749-359_749-358dup
ENST00000264005.9:c.749-359_749-358dup ENSP00000264005.5:n.749-359_749-358dup
ENST00000570369.5:c.156-763_156-762dup
ENST00000570980.1:c.533-359_533-358dup ENSP00000464651.1:n.533-359_533-358dup
ENST00000573538.5:c.392-6_392-5dup ENSP00000463220.1:n.392-6_392-5dup
NM_000229.1:c.749-359_749-358dup NP_000220.1:n.749-359_749-358dup
NM_000229.2:c.749-359_749-358dup MANE Select NP_000220.1:n.749-359_749-358dup
Search 100 bp 5'
Search 100 bp 3'