Canonical Allele Identifier: CA10647724

Gene: LITAF

Linked Data

• ClinVar Variation Id: 317759
• ClinVar RCV Id: RCV000346236
• dbSNP Id: rs886051649
• MyVariant Identifiers: chr16:g.11642544T>C (hg19) ; chr16:g.11548688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11548688T>C , CM000678.2:g.11548688T>C	GRCh38
NC_000016.9:g.11642544T>C , CM000678.1:g.11642544T>C	GRCh37
NC_000016.8:g.11550045T>C	NCBI36
NG_009008.1:g.43263A>G , LRG_253:g.43263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622633.5:c.*949A>G MANE Select	ENSP00000483114.1:n.*949A>G
ENST00000339430.9:c.*949A>G	ENSP00000340118.5:n.*949A>G
ENST00000381810.7:c.*749A>G	ENSP00000371231.3:n.*749A>G
ENST00000413364.6:c.*1074A>G	ENSP00000397958.2:n.*1074A>G
ENST00000571688.5:c.*949A>G	ENSP00000459533.1:n.*949A>G
ENST00000622633.4:c.*949A>G	ENSP00000483114.1:n.*949A>G
NM_001136472.1:c.*949A>G	NP_001129944.1:n.*949A>G
NM_001136473.1:c.*1074A>G , LRG_253t1:c.*1074A>G	NP_001129945.1:n.*1074A>G
NM_004862.3:c.*949A>G	NP_004853.2:n.*949A>G
NR_024320.1:n.1569A>G
XM_006720982.2:c.*949A>G	XP_006721045.1:n.*949A>G
XM_006720983.2:c.*949A>G	XP_006721046.1:n.*949A>G
XM_006720984.2:c.*949A>G	XP_006721047.1:n.*949A>G
XM_006720985.2:c.*949A>G	XP_006721048.1:n.*949A>G
XM_011522754.1:c.*949A>G	XP_011521056.1:n.*949A>G
XM_006720982.3:c.*949A>G	XP_006721045.1:n.*949A>G
XM_006720983.4:c.*949A>G	XP_006721046.1:n.*949A>G
XM_006720984.4:c.*949A>G	XP_006721047.1:n.*949A>G
XM_006720985.3:c.*949A>G	XP_006721048.1:n.*949A>G
XM_011522754.3:c.*949A>G	XP_011521056.1:n.*949A>G
XM_017023896.1:c.*949A>G	XP_016879385.1:n.*949A>G
NM_001136472.2:c.*949A>G MANE Select	NP_001129944.1:n.*949A>G
NM_004862.4:c.*949A>G	NP_004853.2:n.*949A>G
NR_024320.2:n.1569A>G