Canonical Allele Identifier: CA396380823

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67976805T>G (hg19) ; chr16:g.67942902T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942902T>G , CM000678.2:g.67942902T>G	GRCh38
NC_000016.9:g.67976805T>G , CM000678.1:g.67976805T>G	GRCh37
NC_000016.8:g.66534306T>G	NCBI36
NG_009778.1:g.6211A>C
NG_033098.1:g.30793A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.386A>C MANE Select	ENSP00000264005.5:p.Lys129Thr
ENST00000264005.9:c.386A>C	ENSP00000264005.5:p.Lys129Thr
ENST00000570369.5:c.114A>C
ENST00000570980.1:c.170A>C	ENSP00000464651.1:p.Lys57Thr
ENST00000573538.5:c.29A>C	ENSP00000463220.1:p.Lys10Thr
ENST00000575277.1:n.164A>C
ENST00000575467.5:c.*81A>C	ENSP00000460653.1:n.*81A>C
NM_000229.1:c.386A>C	NP_000220.1:p.Lys129Thr
NM_000229.2:c.386A>C MANE Select	NP_000220.1:p.Lys129Thr