Canonical Allele Identifier: CA3489470

Gene: LARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146143082G>A , CM000667.2:g.146143082G>A	GRCh38
NC_000005.9:g.145522645G>A , CM000667.1:g.145522645G>A	GRCh37
NC_000005.8:g.145502838G>A	NCBI36
NG_042294.1:g.44650C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020117.11:c.1880C>T MANE Select	NP_064502.9:p.Pro627Leu
ENST00000394434.7:c.1880C>T MANE Select	ENSP00000377954.2:p.Pro627Leu
NM_001317964.1:c.1742C>T	NP_001304893.1:p.Pro581Leu
NM_001317964.2:c.1742C>T	NP_001304893.1:p.Pro581Leu
NM_001317965.1:c.1718C>T	NP_001304894.1:p.Pro573Leu
NM_001317965.2:c.1718C>T	NP_001304894.1:p.Pro573Leu
NM_016460.3:c.1799C>T	NP_057544.2:p.Pro600Leu
NM_016460.4:c.1799C>T	NP_057544.2:p.Pro600Leu
NM_020117.10:c.1880C>T	NP_064502.9:p.Pro627Leu
NM_020117.9:c.1880C>T	NP_064502.9:p.Pro627Leu
ENST00000274562.13:c.-102-92C>T	ENSP00000274562.10:n.-102-92C>T
ENST00000394434.6:c.1880C>T	ENSP00000377954.2:p.Pro627Leu
ENST00000504323.5:n.485C>T
ENST00000504323.6:n.2310C>T
ENST00000506231.6:n.2114C>T
ENST00000510191.5:c.1718C>T	ENSP00000426005.1:p.Pro573Leu
ENST00000512412.1:n.130C>T
ENST00000512412.2:n.2057C>T
ENST00000514104.5:n.209C>T
ENST00000674158.1:c.1499C>T	ENSP00000501474.1:p.Pro500Leu
ENST00000674170.1:c.*318C>T	ENSP00000501381.1:n.*318C>T
ENST00000674174.1:c.1718C>T	ENSP00000501434.1:p.Pro573Leu
ENST00000674181.1:c.130C>T
ENST00000674191.1:c.1424C>T	ENSP00000501478.1:p.Pro475Leu
ENST00000674218.1:n.2057C>T
ENST00000674270.1:c.1742C>T	ENSP00000501365.1:p.Pro581Leu
ENST00000674277.1:c.1718C>T	ENSP00000501510.1:p.Pro573Leu
ENST00000674290.1:c.1844C>T	ENSP00000501435.1:p.Pro615Leu
ENST00000674309.1:c.1880C>T	ENSP00000501400.1:p.Pro627Leu
ENST00000674310.1:c.1880C>T	ENSP00000501486.1:p.Pro627Leu
ENST00000674383.1:n.1923C>T
ENST00000674398.1:c.1880C>T	ENSP00000501476.1:p.Pro627Leu
ENST00000674447.1:c.1799C>T	ENSP00000501376.1:p.Pro600Leu
ENST00000674467.1:c.1880C>T	ENSP00000501351.1:p.Pro627Leu
ENST00000674471.1:n.2148C>T
ENST00000674479.1:n.2057C>T
XM_011537655.1:c.1742C>T	XP_011535957.1:p.Pro581Leu
XM_011537656.1:c.1718C>T	XP_011535958.1:p.Pro573Leu
XM_011537656.3:c.1718C>T	XP_011535958.1:p.Pro573Leu
XM_011537657.1:c.1877+330C>T	XP_011535959.1:n.1877+330C>T