Canonical Allele Identifier: CA394766088

Gene: LITAF

Linked Data

• dbSNP Id: rs2064220065
• gnomAD v4: 16-11553675-C-T
• MyVariant Identifiers: chr16:g.11647531C>T (hg19) ; chr16:g.11553675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11553675C>T , CM000678.2:g.11553675C>T	GRCh38
NC_000016.9:g.11647531C>T , CM000678.1:g.11647531C>T	GRCh37
NC_000016.8:g.11555032C>T	NCBI36
NG_009008.1:g.38276G>A , LRG_253:g.38276G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622633.5:c.235G>A MANE Select	ENSP00000483114.1:p.Val79Ile
ENST00000339430.9:c.235G>A	ENSP00000340118.5:p.Val79Ile
ENST00000381810.7:c.235G>A	ENSP00000371231.3:p.Val79Ile
ENST00000413364.6:c.235G>A	ENSP00000397958.2:p.Val79Ile
ENST00000570798.5:c.235G>A	ENSP00000458871.1:p.Val79Ile
ENST00000570904.5:c.235G>A	ENSP00000459138.1:p.Val79Ile
ENST00000571459.5:c.220+2836G>A	ENSP00000459603.1:n.220+2836G>A
ENST00000571627.5:c.235G>A	ENSP00000460743.1:p.Val79Ile
ENST00000571688.5:c.235G>A	ENSP00000459533.1:p.Val79Ile
ENST00000571976.1:c.235G>A	ENSP00000460133.1:p.Val79Ile
ENST00000572255.5:c.-45G>A	ENSP00000458836.1:n.-45G>A
ENST00000573332.5:c.*48G>A	ENSP00000460873.1:n.*48G>A
ENST00000574701.5:c.235G>A	ENSP00000458981.1:p.Val79Ile
ENST00000574763.5:c.235G>A	ENSP00000461813.1:p.Val79Ile
ENST00000575426.1:c.54G>A
ENST00000576036.5:c.235G>A	ENSP00000461667.1:p.Val79Ile
ENST00000620789.4:c.235G>A	ENSP00000481589.1:p.Val79Ile
ENST00000622633.4:c.235G>A	ENSP00000483114.1:p.Val79Ile
NM_001136472.1:c.235G>A	NP_001129944.1:p.Val79Ile
NM_001136473.1:c.235G>A , LRG_253t1:c.235G>A	NP_001129945.1:p.Val79Ile
NM_004862.3:c.235G>A	NP_004853.2:p.Val79Ile
NR_024320.1:n.369G>A
XM_006720982.2:c.235G>A	XP_006721045.1:p.Val79Ile
XM_006720983.2:c.235G>A	XP_006721046.1:p.Val79Ile
XM_006720984.2:c.235G>A	XP_006721047.1:p.Val79Ile
XM_006720985.2:c.235G>A	XP_006721048.1:p.Val79Ile
XM_011522754.1:c.325G>A	XP_011521056.1:p.Val109Ile
XM_006720982.3:c.235G>A	XP_006721045.1:p.Val79Ile
XM_006720983.4:c.235G>A	XP_006721046.1:p.Val79Ile
XM_006720984.4:c.235G>A	XP_006721047.1:p.Val79Ile
XM_006720985.3:c.235G>A	XP_006721048.1:p.Val79Ile
XM_011522754.3:c.325G>A	XP_011521056.1:p.Val109Ile
XM_017023896.1:c.235G>A	XP_016879385.1:p.Val79Ile
NM_001136472.2:c.235G>A MANE Select	NP_001129944.1:p.Val79Ile
NM_004862.4:c.235G>A	NP_004853.2:p.Val79Ile
NR_024320.2:n.369G>A