Canonical Allele Identifier: CA394768284

Gene: LITAF

Linked Data

• gnomAD v4: 16-11556613-T-G
• MyVariant Identifiers: chr16:g.11650469T>G (hg19) ; chr16:g.11556613T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11556613T>G , CM000678.2:g.11556613T>G	GRCh38
NC_000016.9:g.11650469T>G , CM000678.1:g.11650469T>G	GRCh37
NC_000016.8:g.11557970T>G	NCBI36
NG_009008.1:g.35338A>C , LRG_253:g.35338A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622633.5:c.118A>C MANE Select	ENSP00000483114.1:p.Met40Leu
ENST00000339430.9:c.118A>C	ENSP00000340118.5:p.Met40Leu
ENST00000381810.7:c.118A>C	ENSP00000371231.3:p.Met40Leu
ENST00000413364.6:c.118A>C	ENSP00000397958.2:p.Met40Leu
ENST00000570798.5:c.118A>C	ENSP00000458871.1:p.Met40Leu
ENST00000570904.5:c.118A>C	ENSP00000459138.1:p.Met40Leu
ENST00000571277.1:c.118A>C
ENST00000571459.5:c.118A>C	ENSP00000459603.1:p.Met40Leu
ENST00000571627.5:c.118A>C	ENSP00000460743.1:p.Met40Leu
ENST00000571688.5:c.118A>C	ENSP00000459533.1:p.Met40Leu
ENST00000571976.1:c.118A>C	ENSP00000460133.1:p.Met40Leu
ENST00000572255.5:c.-59-2924A>C	ENSP00000458836.1:n.-59-2924A>C
ENST00000573332.5:c.118A>C	ENSP00000460873.1:p.Met40Leu
ENST00000574701.5:c.118A>C	ENSP00000458981.1:p.Met40Leu
ENST00000574703.5:c.118A>C	ENSP00000459913.1:p.Met40Leu
ENST00000574763.5:c.118A>C	ENSP00000461813.1:p.Met40Leu
ENST00000574848.5:c.208A>C	ENSP00000459898.1:p.Met70Leu
ENST00000576036.5:c.118A>C	ENSP00000461667.1:p.Met40Leu
ENST00000620789.4:c.118A>C	ENSP00000481589.1:p.Met40Leu
ENST00000622633.4:c.118A>C	ENSP00000483114.1:p.Met40Leu
NM_001136472.1:c.118A>C	NP_001129944.1:p.Met40Leu
NM_001136473.1:c.118A>C , LRG_253t1:c.118A>C	NP_001129945.1:p.Met40Leu
NM_004862.3:c.118A>C	NP_004853.2:p.Met40Leu
NR_024320.1:n.252A>C
XM_006720982.2:c.118A>C	XP_006721045.1:p.Met40Leu
XM_006720983.2:c.118A>C	XP_006721046.1:p.Met40Leu
XM_006720984.2:c.118A>C	XP_006721047.1:p.Met40Leu
XM_006720985.2:c.118A>C	XP_006721048.1:p.Met40Leu
XM_011522754.1:c.208A>C	XP_011521056.1:p.Met70Leu
XM_006720982.3:c.118A>C	XP_006721045.1:p.Met40Leu
XM_006720983.4:c.118A>C	XP_006721046.1:p.Met40Leu
XM_006720984.4:c.118A>C	XP_006721047.1:p.Met40Leu
XM_006720985.3:c.118A>C	XP_006721048.1:p.Met40Leu
XM_011522754.3:c.208A>C	XP_011521056.1:p.Met70Leu
XM_017023896.1:c.118A>C	XP_016879385.1:p.Met40Leu
NM_001136472.2:c.118A>C MANE Select	NP_001129944.1:p.Met40Leu
NM_004862.4:c.118A>C	NP_004853.2:p.Met40Leu
NR_024320.2:n.252A>C