Canonical Allele Identifier: CA174982

Gene: MEOX1

Linked Data

• ClinVar Variation Id: 162132
• ClinVar RCV Id: RCV000149546
• dbSNP Id: rs713993044
• MyVariant Identifiers: chr17:g.41738653G>A (hg19) ; chr17:g.43661285G>A (hg38)
• PubMed: PMID:24073994

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43661285G>A , CM000679.2:g.43661285G>A	GRCh38
NC_000017.10:g.41738653G>A , CM000679.1:g.41738653G>A	GRCh37
NC_000017.9:g.39094179G>A	NCBI36
NG_032987.1:g.5610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318579.9:c.250C>T MANE Select	ENSP00000321684.4:p.Gln84Ter
ENST00000549132.2:c.250C>T	ENSP00000449049.2:p.Gln84Ter
ENST00000318579.8:c.250C>T	ENSP00000321684.4:p.Gln84Ter
ENST00000329168.3:c.250C>T	ENSP00000328678.3:p.Gln84Ter
ENST00000393661.2:c.-96C>T	ENSP00000377271.2:n.-96C>T
ENST00000549132.1:c.162C>T	ENSP00000449049.1:p.Ser54=
NM_001040002.1:c.-96C>T	NP_001035091.1:n.-96C>T
NM_004527.3:c.250C>T	NP_004518.1:p.Gln84Ter
NM_013999.3:c.250C>T	NP_054705.1:p.Gln84Ter
XM_011524818.1:c.250C>T	XP_011523120.1:p.Gln84Ter
XM_011524818.2:c.250C>T	XP_011523120.1:p.Gln84Ter
NM_004527.4:c.250C>T MANE Select	NP_004518.1:p.Gln84Ter
NM_001040002.2:c.-96C>T	NP_001035091.1:n.-96C>T
NM_013999.4:c.250C>T	NP_054705.1:p.Gln84Ter