Canonical Allele Identifier: CA344234

Gene: LITAF

Linked Data

• ClinVar Variation Id: 41230
• ClinVar RCV Id: RCV000034129 ; RCV000789996
• dbSNP Id: rs281865135
• MyVariant Identifiers: chr16:g.11643576G>T (hg19) ; chr16:g.11549720G>T (hg38)
• PubMed: PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11549720G>T , CM000678.2:g.11549720G>T	GRCh38
NC_000016.9:g.11643576G>T , CM000678.1:g.11643576G>T	GRCh37
NC_000016.8:g.11551077G>T	NCBI36
NG_009008.1:g.42231C>A , LRG_253:g.42231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622633.5:c.403C>A MANE Select	ENSP00000483114.1:p.Pro135Thr
ENST00000339430.9:c.403C>A	ENSP00000340118.5:p.Pro135Thr
ENST00000381810.7:c.404C>A	ENSP00000371231.3:p.Pro135His
ENST00000413364.6:c.*42C>A	ENSP00000397958.2:n.*42C>A
ENST00000570798.5:c.403C>A	ENSP00000458871.1:p.Pro135Thr
ENST00000570904.5:c.403C>A	ENSP00000459138.1:p.Pro135Thr
ENST00000571459.5:c.*18C>A	ENSP00000459603.1:n.*18C>A
ENST00000571627.5:c.403C>A	ENSP00000460743.1:p.Pro135Thr
ENST00000571688.5:c.403C>A	ENSP00000459533.1:p.Pro135Thr
ENST00000572255.5:c.124C>A	ENSP00000458836.1:p.Pro42Thr
ENST00000573332.5:c.*216C>A	ENSP00000460873.1:n.*216C>A
ENST00000574763.5:c.403C>A	ENSP00000461813.1:p.Pro135Thr
ENST00000575426.1:c.222C>A
ENST00000576036.5:c.403C>A	ENSP00000461667.1:p.Pro135Thr
ENST00000622633.4:c.403C>A	ENSP00000483114.1:p.Pro135Thr
NM_001136472.1:c.403C>A	NP_001129944.1:p.Pro135Thr
NM_001136473.1:c.*42C>A , LRG_253t1:c.*42C>A	NP_001129945.1:n.*42C>A
NM_004862.3:c.403C>A	NP_004853.2:p.Pro135Thr
NR_024320.1:n.537C>A
XM_006720982.2:c.403C>A	XP_006721045.1:p.Pro135Thr
XM_006720983.2:c.403C>A	XP_006721046.1:p.Pro135Thr
XM_006720984.2:c.403C>A	XP_006721047.1:p.Pro135Thr
XM_006720985.2:c.403C>A	XP_006721048.1:p.Pro135Thr
XM_011522754.1:c.493C>A	XP_011521056.1:p.Pro165Thr
XM_006720982.3:c.403C>A	XP_006721045.1:p.Pro135Thr
XM_006720983.4:c.403C>A	XP_006721046.1:p.Pro135Thr
XM_006720984.4:c.403C>A	XP_006721047.1:p.Pro135Thr
XM_006720985.3:c.403C>A	XP_006721048.1:p.Pro135Thr
XM_011522754.3:c.493C>A	XP_011521056.1:p.Pro165Thr
XM_017023896.1:c.403C>A	XP_016879385.1:p.Pro135Thr
NM_001136472.2:c.403C>A MANE Select	NP_001129944.1:p.Pro135Thr
NM_004862.4:c.403C>A	NP_004853.2:p.Pro135Thr
NR_024320.2:n.537C>A