Canonical Allele Identifier: CA367123925

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649201C>T (hg19) ; chr7:g.30609585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609585C>T , CM000669.2:g.30609585C>T	GRCh38
NC_000007.13:g.30649201C>T , CM000669.1:g.30649201C>T	GRCh37
NC_000007.12:g.30615726C>T	NCBI36
NG_007942.1:g.20021C>T , LRG_243:g.20021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.736C>T MANE Select	ENSP00000373918.3:p.Leu246Phe
ENST00000444666.6:c.736C>T	ENSP00000415447.2:p.Leu246Phe
ENST00000470392.2:n.826C>T
ENST00000478124.6:n.799C>T
ENST00000485784.2:n.815C>T
ENST00000674616.1:c.*450C>T	ENSP00000502408.1:n.*450C>T
ENST00000674643.1:c.736C>T	ENSP00000501636.1:p.Leu246Phe
ENST00000674734.1:n.1232C>T
ENST00000674737.1:c.*74C>T	ENSP00000502464.1:n.*74C>T
ENST00000674807.1:c.736C>T	ENSP00000502814.1:p.Leu246Phe
ENST00000674815.1:c.367C>T	ENSP00000502799.1:p.Leu123Phe
ENST00000674851.1:c.367C>T	ENSP00000502451.1:p.Leu123Phe
ENST00000674969.1:n.2609C>T
ENST00000675051.1:c.535C>T	ENSP00000502296.1:p.Leu179Phe
ENST00000675529.1:c.*606C>T	ENSP00000501655.1:n.*606C>T
ENST00000675587.1:n.752C>T
ENST00000675651.1:c.736C>T	ENSP00000502513.1:p.Leu246Phe
ENST00000675693.1:c.568C>T	ENSP00000502174.1:p.Leu190Phe
ENST00000675810.1:c.634C>T	ENSP00000502743.1:p.Leu212Phe
ENST00000675859.1:c.736C>T	ENSP00000502033.1:p.Leu246Phe
ENST00000675863.1:n.744C>T
ENST00000675886.1:n.6776C>T
ENST00000676088.1:c.*678C>T	ENSP00000501884.1:n.*678C>T
ENST00000676140.1:c.736C>T	ENSP00000502571.1:p.Leu246Phe
ENST00000676164.1:c.*187C>T	ENSP00000501986.1:n.*187C>T
ENST00000676210.1:c.*25C>T	ENSP00000502373.1:n.*25C>T
ENST00000676259.1:c.*168C>T	ENSP00000501980.1:n.*168C>T
ENST00000676403.1:c.736C>T	ENSP00000502681.1:p.Leu246Phe
ENST00000389266.7:c.736C>T	ENSP00000373918.3:p.Leu246Phe
ENST00000478124.5:n.774C>T
NM_001316772.1:c.574C>T	NP_001303701.1:p.Leu192Phe
NM_002047.2:c.736C>T , LRG_243t1:c.736C>T	NP_002038.2:p.Leu246Phe
NM_002047.3:c.736C>T	NP_002038.2:p.Leu246Phe
XM_006715686.1:c.367C>T	XP_006715749.1:p.Leu123Phe
XM_006715686.2:c.367C>T	XP_006715749.1:p.Leu123Phe
NM_002047.4:c.736C>T MANE Select	NP_002038.2:p.Leu246Phe