Canonical Allele Identifier: CA356138208

Gene: MSX1

Linked Data

• dbSNP Id: rs1398311504
• gnomAD v2: 4-4864440-C-T
• gnomAD v4: 4-4862713-C-T
• MyVariant Identifiers: chr4:g.4864440C>T (hg19) ; chr4:g.4862713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862713C>T , CM000666.2:g.4862713C>T	GRCh38
NC_000004.11:g.4864440C>T , CM000666.1:g.4864440C>T	GRCh37
NC_000004.10:g.4915341C>T	NCBI36
NG_008121.1:g.8049C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.482C>T MANE Select	ENSP00000372170.4:p.Pro161Leu
ENST00000382723.4:c.482C>T	ENSP00000372170.4:p.Pro161Leu
ENST00000468421.1:n.194C>T
NM_002448.3:c.482C>T MANE Select	NP_002439.2:p.Pro161Leu