Canonical Allele Identifier: CA399904669

Gene: MEOX1

Linked Data

• dbSNP Id: rs713993044
• gnomAD v2: 17-41738653-G-T
• MyVariant Identifiers: chr17:g.41738653G>T (hg19) ; chr17:g.43661285G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000318579.9:c.250C>A MANE Select	ENSP00000321684.4:p.Gln84Lys
ENST00000549132.2:c.250C>A	ENSP00000449049.2:p.Gln84Lys
ENST00000318579.8:c.250C>A	ENSP00000321684.4:p.Gln84Lys
ENST00000329168.3:c.250C>A	ENSP00000328678.3:p.Gln84Lys
ENST00000393661.2:c.-96C>A	ENSP00000377271.2:n.-96C>A
ENST00000549132.1:c.162C>A	ENSP00000449049.1:p.Ser54Arg
NM_001040002.1:c.-96C>A	NP_001035091.1:n.-96C>A
NM_004527.3:c.250C>A	NP_004518.1:p.Gln84Lys
NM_013999.3:c.250C>A	NP_054705.1:p.Gln84Lys
XM_011524818.1:c.250C>A	XP_011523120.1:p.Gln84Lys
XM_011524818.2:c.250C>A	XP_011523120.1:p.Gln84Lys
NM_004527.4:c.250C>A MANE Select	NP_004518.1:p.Gln84Lys
NM_001040002.2:c.-96C>A	NP_001035091.1:n.-96C>A
NM_013999.4:c.250C>A	NP_054705.1:p.Gln84Lys