Canonical Allele Identifier: CA367124495

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649286C>T (hg19) ; chr7:g.30609670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609670C>T , CM000669.2:g.30609670C>T	GRCh38
NC_000007.13:g.30649286C>T , CM000669.1:g.30649286C>T	GRCh37
NC_000007.12:g.30615811C>T	NCBI36
NG_007942.1:g.20106C>T , LRG_243:g.20106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.821C>T MANE Select	ENSP00000373918.3:p.Pro274Leu
ENST00000444666.6:c.821C>T	ENSP00000415447.2:p.Pro274Leu
ENST00000470392.2:n.911C>T
ENST00000478124.6:n.884C>T
ENST00000485784.2:n.900C>T
ENST00000674616.1:c.*535C>T	ENSP00000502408.1:n.*535C>T
ENST00000674643.1:c.821C>T	ENSP00000501636.1:p.Pro274Leu
ENST00000674734.1:n.1317C>T
ENST00000674737.1:c.*159C>T	ENSP00000502464.1:n.*159C>T
ENST00000674807.1:c.821C>T	ENSP00000502814.1:p.Pro274Leu
ENST00000674815.1:c.452C>T	ENSP00000502799.1:p.Pro151Leu
ENST00000674851.1:c.452C>T	ENSP00000502451.1:p.Pro151Leu
ENST00000674969.1:n.2694C>T
ENST00000675051.1:c.620C>T	ENSP00000502296.1:p.Pro207Leu
ENST00000675529.1:c.*691C>T	ENSP00000501655.1:n.*691C>T
ENST00000675587.1:n.837C>T
ENST00000675651.1:c.821C>T	ENSP00000502513.1:p.Pro274Leu
ENST00000675693.1:c.653C>T	ENSP00000502174.1:p.Pro218Leu
ENST00000675810.1:c.719C>T	ENSP00000502743.1:p.Pro240Leu
ENST00000675859.1:c.821C>T	ENSP00000502033.1:p.Pro274Leu
ENST00000675863.1:n.829C>T
ENST00000675886.1:n.6861C>T
ENST00000676088.1:c.*763C>T	ENSP00000501884.1:n.*763C>T
ENST00000676140.1:c.821C>T	ENSP00000502571.1:p.Pro274Leu
ENST00000676164.1:c.*272C>T	ENSP00000501986.1:n.*272C>T
ENST00000676210.1:c.*110C>T	ENSP00000502373.1:n.*110C>T
ENST00000676259.1:c.*253C>T	ENSP00000501980.1:n.*253C>T
ENST00000676403.1:c.821C>T	ENSP00000502681.1:p.Pro274Leu
ENST00000389266.7:c.821C>T	ENSP00000373918.3:p.Pro274Leu
ENST00000478124.5:n.859C>T
NM_001316772.1:c.659C>T	NP_001303701.1:p.Pro220Leu
NM_002047.2:c.821C>T , LRG_243t1:c.821C>T	NP_002038.2:p.Pro274Leu
NM_002047.3:c.821C>T	NP_002038.2:p.Pro274Leu
XM_006715686.1:c.452C>T	XP_006715749.1:p.Pro151Leu
XM_006715686.2:c.452C>T	XP_006715749.1:p.Pro151Leu
NM_002047.4:c.821C>T MANE Select	NP_002038.2:p.Pro274Leu