Canonical Allele Identifier: CA912996414
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942894_67942895insCCA , CM000678.2:g.67942894_67942895insCCA GRCh38
NC_000016.9:g.67976797_67976798insCCA , CM000678.1:g.67976797_67976798insCCA GRCh37
NC_000016.8:g.66534298_66534299insCCA NCBI36
NG_009778.1:g.6219_6220insGGT
NG_033098.1:g.30801_30802insGGT

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.394_395insGGT MANE Select ENSP00000264005.5:p.Tyr131_Ser132insTrp
ENST00000264005.9:c.394_395insGGT ENSP00000264005.5:p.Tyr131_Ser132insTrp
ENST00000570369.5:c.122_123insGGT
ENST00000570980.1:c.178_179insGGT ENSP00000464651.1:p.Tyr59_Ser60insTrp
ENST00000573538.5:c.37_38insGGT ENSP00000463220.1:p.Tyr12_Ser13insTrp
ENST00000573846.1:n.8_9insGGT
ENST00000575277.1:n.172_173insGGT
ENST00000575467.5:c.*89_*90insGGT ENSP00000460653.1:n.*89_*90insGGT
NM_000229.1:c.394_395insGGT NP_000220.1:p.Tyr131_Ser132insTrp
NM_000229.2:c.394_395insGGT MANE Select NP_000220.1:p.Tyr131_Ser132insTrp