Canonical Allele Identifier: CA745111

Gene: YARS1

Linked Data

• ClinVar Variation Id: 464881
• ClinVar RCV Id: RCV000556540 ; RCV002461303 ; RCV001597164
• dbSNP Id: rs141482636
• ExAC: 1:33252566 C / G
• gnomAD v2: 1-33252566-C-G
• gnomAD v3: 1-32786965-C-G
• gnomAD v4: 1-32786965-C-G
• MyVariant Identifiers: chr1:g.33252566C>G (hg19) ; chr1:g.32786965C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32786965C>G , CM000663.2:g.32786965C>G	GRCh38
NC_000001.10:g.33252566C>G , CM000663.1:g.33252566C>G	GRCh37
NC_000001.9:g.33025153C>G	NCBI36
NG_008408.1:g.36068G>C , LRG_273:g.36068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.648G>C	ENSP00000502019.1:p.Lys216Asn
ENST00000373477.9:c.795G>C MANE Select	ENSP00000362576.4:p.Lys265Asn
ENST00000481895.6:c.*870G>C	ENSP00000502016.1:n.*870G>C
ENST00000616261.2:c.*164G>C	ENSP00000484192.2:n.*164G>C
ENST00000674629.1:c.*343G>C	ENSP00000502470.1:n.*343G>C
ENST00000674654.1:c.*263G>C	ENSP00000501729.1:n.*263G>C
ENST00000675785.1:c.648G>C	ENSP00000502019.1:p.Lys216Asn
ENST00000676297.1:c.*477G>C	ENSP00000501596.1:n.*477G>C
ENST00000373477.8:c.795G>C	ENSP00000362576.4:p.Lys265Asn
ENST00000466052.1:n.703G>C
ENST00000481895.5:n.915G>C
ENST00000616261.1:c.795G>C	ENSP00000484192.1:p.Lys265Asn
NM_003680.3:c.795G>C , LRG_273t1:c.795G>C	NP_003671.1:p.Lys265Asn
XM_011542347.1:c.165G>C	XP_011540649.1:p.Lys55Asn
XM_011542348.1:c.165G>C	XP_011540650.1:p.Lys55Asn
XM_011542347.2:c.165G>C	XP_011540649.1:p.Lys55Asn
XM_017002651.2:c.165G>C	XP_016858140.1:p.Lys55Asn
NM_003680.4:c.795G>C MANE Select	NP_003671.1:p.Lys265Asn