Canonical Allele Identifier: CA2833073

Gene: MSX1

Linked Data

• dbSNP Id: rs781456258
• ExAC: 4:4864512 T / C
• gnomAD v2: 4-4864512-T-C
• MyVariant Identifiers: chr4:g.4864512T>C (hg19) ; chr4:g.4862785T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862785T>C , CM000666.2:g.4862785T>C	GRCh38
NC_000004.11:g.4864512T>C , CM000666.1:g.4864512T>C	GRCh37
NC_000004.10:g.4915413T>C	NCBI36
NG_008121.1:g.8121T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.554T>C MANE Select	ENSP00000372170.4:p.Leu185Pro
ENST00000382723.4:c.554T>C	ENSP00000372170.4:p.Leu185Pro
ENST00000468421.1:n.266T>C
NM_002448.3:c.554T>C MANE Select	NP_002439.2:p.Leu185Pro