Canonical Allele Identifier: CA379153095

Gene: CARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.3018697A>T , CM000673.2:g.3018697A>T	GRCh38
NC_000011.9:g.3039927A>T , CM000673.1:g.3039927A>T	GRCh37
NC_000011.8:g.2996503A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001014437.3:c.1448T>A MANE Select	NP_001014437.1:p.Leu483Gln
ENST00000380525.9:c.1448T>A MANE Select	ENSP00000369897.4:p.Leu483Gln
NM_001014437.2:c.1448T>A	NP_001014437.1:p.Leu483Gln
NM_001194997.1:c.1448T>A	NP_001181926.1:p.Leu483Gln
NM_001194997.2:c.1448T>A	NP_001181926.1:p.Leu483Gln
NM_001378136.1:c.1238T>A	NP_001365065.1:p.Leu413Gln
NM_001378137.1:c.1169T>A	NP_001365066.1:p.Leu390Gln
NM_001378138.1:c.1169T>A	NP_001365067.1:p.Leu390Gln
NM_001378139.1:c.1169T>A	NP_001365068.1:p.Leu390Gln
NM_001378140.1:c.923T>A	NP_001365069.1:p.Leu308Gln
NM_001751.5:c.1199T>A	NP_001742.1:p.Leu400Gln
NM_001751.6:c.1199T>A	NP_001742.1:p.Leu400Gln
NM_139273.3:c.1199T>A	NP_644802.1:p.Leu400Gln
NM_139273.4:c.1199T>A	NP_644802.1:p.Leu400Gln
NR_036542.1:n.1579T>A
NR_036542.2:n.1551T>A
NR_165428.1:n.1551T>A
NR_165429.1:n.1255T>A
NR_165430.1:n.1255T>A
ENST00000278224.13:c.1199T>A	ENSP00000278224.9:p.Leu400Gln
ENST00000380525.8:c.1448T>A	ENSP00000369897.4:p.Leu483Gln
ENST00000397111.9:c.1199T>A	ENSP00000380300.5:p.Leu400Gln
ENST00000526890.5:n.3457T>A
ENST00000529772.5:c.1238T>A	ENSP00000432619.2:p.Leu413Gln
ENST00000531387.5:c.*1108T>A	ENSP00000431368.1:n.*1108T>A
XM_006718341.2:c.1169T>A	XP_006718404.1:p.Leu390Gln
XM_006718341.3:c.1169T>A	XP_006718404.1:p.Leu390Gln
XM_017018389.1:c.1169T>A	XP_016873878.1:p.Leu390Gln
XM_017018390.1:c.1169T>A	XP_016873879.1:p.Leu390Gln
XM_017018391.1:c.923T>A	XP_016873880.1:p.Leu308Gln
XM_017018392.2:c.1238T>A	XP_016873881.1:p.Leu413Gln
XM_024448701.1:c.1448T>A	XP_024304469.1:p.Leu483Gln
XM_024448702.1:c.1448T>A	XP_024304470.1:p.Leu483Gln
XM_024448703.1:c.1199T>A	XP_024304471.1:p.Leu400Gln
XM_024448704.1:c.1169T>A	XP_024304472.1:p.Leu390Gln
XM_024448705.1:c.923T>A	XP_024304473.1:p.Leu308Gln
XR_001747995.2:n.1255T>A
XR_001747996.2:n.1255T>A
XR_001747997.1:n.1546T>A
XR_001747998.1:n.1504T>A
XR_002957203.1:n.1504T>A
XR_002957204.1:n.1504T>A
XR_428857.1:n.1504T>A
XR_930913.1:n.1504T>A
XR_930914.1:n.1504T>A
XR_930914.2:n.1504T>A