Canonical Allele Identifier: CA522246377

Gene: YARS1

Linked Data

• dbSNP Id: rs1269968684
• gnomAD v2: 1-33245980-G-GGCC
• gnomAD v3: 1-32780379-G-GGCC
• gnomAD v4: 1-32780379-G-GGCC
• MyVariant Identifiers: chr1:g.33245980_33245981insGCC (hg19) ; chr1:g.32780379_32780380insGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780380_32780382dup , CM000663.2:g.32780380_32780382dup	GRCh38
NC_000001.10:g.33245981_33245983dup , CM000663.1:g.33245981_33245983dup	GRCh37
NC_000001.9:g.33018568_33018570dup	NCBI36
NG_008408.1:g.42651_42653dup , LRG_273:g.42651_42653dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.994-104_994-102dup	ENSP00000502019.1:n.994-104_994-102dup
ENST00000373477.9:c.1141-104_1141-102dup MANE Select	ENSP00000362576.4:n.1141-104_1141-102dup
ENST00000674629.1:c.*689-104_*689-102dup	ENSP00000502470.1:n.*689-104_*689-102dup
ENST00000674654.1:c.*1101-104_*1101-102dup	ENSP00000501729.1:n.*1101-104_*1101-102dup
ENST00000675785.1:c.994-104_994-102dup	ENSP00000502019.1:n.994-104_994-102dup
ENST00000676297.1:c.*1315-104_*1315-102dup	ENSP00000501596.1:n.*1315-104_*1315-102dup
ENST00000373477.8:c.1141-104_1141-102dup	ENSP00000362576.4:n.1141-104_1141-102dup
ENST00000469100.5:n.1057-104_1057-102dup
ENST00000478828.1:n.608-104_608-102dup
ENST00000487404.5:n.1451-104_1451-102dup
ENST00000490826.1:n.330_332dup
ENST00000616261.1:c.1140-104_1140-102dup	ENSP00000484192.1:n.1140-104_1140-102dup
NM_003680.3:c.1141-104_1141-102dup , LRG_273t1:c.1141-104_1141-102dup	NP_003671.1:n.1141-104_1141-102dup
XM_011542347.1:c.511-104_511-102dup	XP_011540649.1:n.511-104_511-102dup
XM_011542348.1:c.511-104_511-102dup	XP_011540650.1:n.511-104_511-102dup
XM_011542347.2:c.511-104_511-102dup	XP_011540649.1:n.511-104_511-102dup
XM_017002651.2:c.511-104_511-102dup	XP_016858140.1:n.511-104_511-102dup
NM_003680.4:c.1141-104_1141-102dup MANE Select	NP_003671.1:n.1141-104_1141-102dup