Canonical Allele Identifier: CA340515
Gene: LITAF HGNC NCBI

Linked Data

ClinVar Variation Id: 6059
ClinVar RCV Id: RCV000006431
dbSNP Id: rs104894521

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11553564A>C , CM000678.2:g.11553564A>C GRCh38
NC_000016.9:g.11647420A>C , CM000678.1:g.11647420A>C GRCh37
NC_000016.8:g.11554921A>C NCBI36
NG_009008.1:g.38387T>G , LRG_253:g.38387T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000339430.9:c.346T>G ENSP00000340118.5:p.Trp116Gly
ENST00000381810.7:c.346T>G ENSP00000371231.3:p.Trp116Gly
ENST00000413364.6:c.346T>G ENSP00000397958.2:p.Trp116Gly
ENST00000570798.5:c.346T>G ENSP00000458871.1:p.Trp116Gly
ENST00000570904.5:c.346T>G ENSP00000459138.1:p.Trp116Gly
ENST00000571459.5:c.220+2947T>G ENSP00000459603.1:p.=
ENST00000571627.5:c.346T>G ENSP00000460743.1:p.Trp116Gly
ENST00000571688.5:c.346T>G ENSP00000459533.1:p.Trp116Gly
ENST00000571976.1:c.346T>G ENSP00000460133.1:p.Trp116Gly
ENST00000572255.5:c.67T>G ENSP00000458836.1:p.Trp23Gly
ENST00000573332.5:c.*159T>G ENSP00000460873.1:p.=
ENST00000574701.5:c.346T>G ENSP00000458981.1:p.Trp116Gly
ENST00000574763.5:c.346T>G ENSP00000461813.1:p.Trp116Gly
ENST00000576036.5:c.346T>G ENSP00000461667.1:p.Trp116Gly
ENST00000620789.4:c.346T>G ENSP00000481589.1:p.Trp116Gly
ENST00000622633.4:c.346T>G ENSP00000483114.1:p.Trp116Gly
NM_001136472.1:c.346T>G NP_001129944.1:p.Trp116Gly
NM_001136473.1:c.346T>G , LRG_253t1:c.346T>G NP_001129945.1:p.Trp116Gly
NM_004862.3:c.346T>G NP_004853.2:p.Trp116Gly
XM_006720982.2:c.346T>G XP_006721045.1:p.Trp116Gly
XM_006720983.2:c.346T>G XP_006721046.1:p.Trp116Gly
XM_006720984.2:c.346T>G XP_006721047.1:p.Trp116Gly
XM_006720985.2:c.346T>G XP_006721048.1:p.Trp116Gly
XM_011522754.1:c.436T>G XP_011521056.1:p.Trp146Gly
XM_006720982.3:c.346T>G XP_006721045.1:p.Trp116Gly
XM_006720983.4:c.346T>G XP_006721046.1:p.Trp116Gly
XM_006720984.4:c.346T>G XP_006721047.1:p.Trp116Gly
XM_006720985.3:c.346T>G XP_006721048.1:p.Trp116Gly
XM_011522754.3:c.436T>G XP_011521056.1:p.Trp146Gly
XM_017023896.1:c.346T>G XP_016879385.1:p.Trp116Gly
NM_001136472.2:c.346T>G MANE Select NP_001129944.1:p.Trp116Gly
NM_004862.4:c.346T>G NP_004853.2:p.Trp116Gly