Canonical Allele Identifier: CA8121105
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs35673026
ExAC: 16:67976851 C / A
gnomAD v2: 16-67976851-C-A
gnomAD v4: 16-67942948-C-A
MyVariant Identifiers: chr16:g.67976851C>A (hg19) chr16:g.67942948C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942948C>A , CM000678.2:g.67942948C>A GRCh38
NC_000016.9:g.67976851C>A , CM000678.1:g.67976851C>A GRCh37
NC_000016.8:g.66534352C>A NCBI36
NG_009778.1:g.6165G>T
NG_033098.1:g.30747G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.340G>T MANE Select ENSP00000264005.5:p.Val114Leu
ENST00000264005.9:c.340G>T ENSP00000264005.5:p.Val114Leu
ENST00000570369.5:c.68G>T
ENST00000570980.1:c.124G>T ENSP00000464651.1:p.Val42Leu
ENST00000575277.1:n.118G>T
ENST00000575467.5:c.*35G>T ENSP00000460653.1:n.*35G>T
NM_000229.1:c.340G>T NP_000220.1:p.Val114Leu
NM_000229.2:c.340G>T MANE Select NP_000220.1:p.Val114Leu
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