Canonical Allele Identifier: CA5824026
Community Standard Title: NM_001014437.3(CARS1):c.1387C>T (p.Gln463Ter)
Gene: CARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.3019147G>A , CM000673.2:g.3019147G>A GRCh38
NC_000011.9:g.3040377G>A , CM000673.1:g.3040377G>A GRCh37
NC_000011.8:g.2996953G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001014437.3:c.1387C>T MANE Select NP_001014437.1:p.Gln463Ter
ENST00000380525.9:c.1387C>T MANE Select ENSP00000369897.4:p.Gln463Ter
NM_001014437.2:c.1387C>T NP_001014437.1:p.Gln463Ter
NM_001194997.1:c.1387C>T NP_001181926.1:p.Gln463Ter
NM_001194997.2:c.1387C>T NP_001181926.1:p.Gln463Ter
NM_001378136.1:c.1177C>T NP_001365065.1:p.Gln393Ter
NM_001378137.1:c.1108C>T NP_001365066.1:p.Gln370Ter
NM_001378138.1:c.1108C>T NP_001365067.1:p.Gln370Ter
NM_001378139.1:c.1108C>T NP_001365068.1:p.Gln370Ter
NM_001378140.1:c.862C>T NP_001365069.1:p.Gln288Ter
NM_001751.5:c.1138C>T NP_001742.1:p.Gln380Ter
NM_001751.6:c.1138C>T NP_001742.1:p.Gln380Ter
NM_139273.3:c.1138C>T NP_644802.1:p.Gln380Ter
NM_139273.4:c.1138C>T NP_644802.1:p.Gln380Ter
NR_036542.1:n.1518C>T
NR_036542.2:n.1490C>T
NR_165428.1:n.1490C>T
NR_165429.1:n.1194C>T
NR_165430.1:n.1194C>T
ENST00000278224.13:c.1138C>T ENSP00000278224.9:p.Gln380Ter
ENST00000380525.8:c.1387C>T ENSP00000369897.4:p.Gln463Ter
ENST00000397111.9:c.1138C>T ENSP00000380300.5:p.Gln380Ter
ENST00000526890.5:n.3396C>T
ENST00000529772.5:c.1177C>T ENSP00000432619.2:p.Gln393Ter
ENST00000531387.5:c.*1047C>T ENSP00000431368.1:n.*1047C>T
XM_006718341.2:c.1108C>T XP_006718404.1:p.Gln370Ter
XM_006718341.3:c.1108C>T XP_006718404.1:p.Gln370Ter
XM_017018389.1:c.1108C>T XP_016873878.1:p.Gln370Ter
XM_017018390.1:c.1108C>T XP_016873879.1:p.Gln370Ter
XM_017018391.1:c.862C>T XP_016873880.1:p.Gln288Ter
XM_017018392.2:c.1177C>T XP_016873881.1:p.Gln393Ter
XM_024448701.1:c.1387C>T XP_024304469.1:p.Gln463Ter
XM_024448702.1:c.1387C>T XP_024304470.1:p.Gln463Ter
XM_024448703.1:c.1138C>T XP_024304471.1:p.Gln380Ter
XM_024448704.1:c.1108C>T XP_024304472.1:p.Gln370Ter
XM_024448705.1:c.862C>T XP_024304473.1:p.Gln288Ter
XR_001747995.2:n.1194C>T
XR_001747996.2:n.1194C>T
XR_001747997.1:n.1485C>T
XR_001747998.1:n.1443C>T
XR_002957203.1:n.1443C>T
XR_002957204.1:n.1443C>T
XR_428857.1:n.1443C>T
XR_930913.1:n.1443C>T
XR_930914.1:n.1443C>T
XR_930914.2:n.1443C>T