Canonical Allele Identifier: CA344230

Gene: LITAF

Linked Data

• ClinVar Variation Id: 41229
• ClinVar RCV Id: RCV000034128 ; RCV000789997
• dbSNP Id: rs281865134
• MyVariant Identifiers: chr16:g.11647434G>C (hg19) ; chr16:g.11553578G>C (hg38)
• PubMed: PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11553578G>C , CM000678.2:g.11553578G>C	GRCh38
NC_000016.9:g.11647434G>C , CM000678.1:g.11647434G>C	GRCh37
NC_000016.8:g.11554935G>C	NCBI36
NG_009008.1:g.38373C>G , LRG_253:g.38373C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622633.5:c.332C>G MANE Select	ENSP00000483114.1:p.Ala111Gly
ENST00000339430.9:c.332C>G	ENSP00000340118.5:p.Ala111Gly
ENST00000381810.7:c.332C>G	ENSP00000371231.3:p.Ala111Gly
ENST00000413364.6:c.332C>G	ENSP00000397958.2:p.Ala111Gly
ENST00000570798.5:c.332C>G	ENSP00000458871.1:p.Ala111Gly
ENST00000570904.5:c.332C>G	ENSP00000459138.1:p.Ala111Gly
ENST00000571459.5:c.220+2933C>G	ENSP00000459603.1:n.220+2933C>G
ENST00000571627.5:c.332C>G	ENSP00000460743.1:p.Ala111Gly
ENST00000571688.5:c.332C>G	ENSP00000459533.1:p.Ala111Gly
ENST00000571976.1:c.332C>G	ENSP00000460133.1:p.Ala111Gly
ENST00000572255.5:c.53C>G	ENSP00000458836.1:p.Ala18Gly
ENST00000573332.5:c.*145C>G	ENSP00000460873.1:n.*145C>G
ENST00000574701.5:c.332C>G	ENSP00000458981.1:p.Ala111Gly
ENST00000574763.5:c.332C>G	ENSP00000461813.1:p.Ala111Gly
ENST00000575426.1:c.151C>G
ENST00000576036.5:c.332C>G	ENSP00000461667.1:p.Ala111Gly
ENST00000620789.4:c.332C>G	ENSP00000481589.1:p.Ala111Gly
ENST00000622633.4:c.332C>G	ENSP00000483114.1:p.Ala111Gly
NM_001136472.1:c.332C>G	NP_001129944.1:p.Ala111Gly
NM_001136473.1:c.332C>G , LRG_253t1:c.332C>G	NP_001129945.1:p.Ala111Gly
NM_004862.3:c.332C>G	NP_004853.2:p.Ala111Gly
NR_024320.1:n.466C>G
XM_006720982.2:c.332C>G	XP_006721045.1:p.Ala111Gly
XM_006720983.2:c.332C>G	XP_006721046.1:p.Ala111Gly
XM_006720984.2:c.332C>G	XP_006721047.1:p.Ala111Gly
XM_006720985.2:c.332C>G	XP_006721048.1:p.Ala111Gly
XM_011522754.1:c.422C>G	XP_011521056.1:p.Ala141Gly
XM_006720982.3:c.332C>G	XP_006721045.1:p.Ala111Gly
XM_006720983.4:c.332C>G	XP_006721046.1:p.Ala111Gly
XM_006720984.4:c.332C>G	XP_006721047.1:p.Ala111Gly
XM_006720985.3:c.332C>G	XP_006721048.1:p.Ala111Gly
XM_011522754.3:c.422C>G	XP_011521056.1:p.Ala141Gly
XM_017023896.1:c.332C>G	XP_016879385.1:p.Ala111Gly
NM_001136472.2:c.332C>G MANE Select	NP_001129944.1:p.Ala111Gly
NM_004862.4:c.332C>G	NP_004853.2:p.Ala111Gly
NR_024320.2:n.466C>G