Canonical Allele Identifier: CA291225738

Gene: MYL4

Linked Data

• ClinVar Variation Id: 2635232
• ClinVar RCV Id: RCV003410475
• dbSNP Id: rs758768590
• gnomAD v4: 17-47221744-A-G
• MyVariant Identifiers: chr17:g.45299110A>G (hg19) ; chr17:g.47221744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221744A>G , CM000679.2:g.47221744A>G	GRCh38
NC_000017.10:g.45299110A>G , CM000679.1:g.45299110A>G	GRCh37
NC_000017.9:g.42654109A>G	NCBI36
NG_052847.1:g.17728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354968.5:c.376A>G	ENSP00000347055.1:p.Asn126Asp
ENST00000393450.5:c.376A>G MANE Select	ENSP00000377096.1:p.Asn126Asp
ENST00000536623.6:c.376A>G	ENSP00000442375.2:p.Asn126Asp
ENST00000570671.1:c.87A>G
ENST00000570772.5:c.*162A>G	ENSP00000458194.1:n.*162A>G
ENST00000571981.5:c.*162A>G	ENSP00000459035.1:n.*162A>G
ENST00000572303.1:c.469A>G	ENSP00000461747.1:p.Asn157Asp
ENST00000572316.5:c.376A>G	ENSP00000461570.1:p.Asn126Asp
ENST00000573747.6:c.326A>G	ENSP00000460734.1:p.Gln109Arg
ENST00000576874.5:c.376A>G	ENSP00000458907.1:p.Asn126Asp
NM_001002841.1:c.376A>G	NP_001002841.1:p.Asn126Asp
NM_002476.2:c.376A>G MANE Select	NP_002467.1:p.Asn126Asp
XM_005257391.3:c.376A>G	XP_005257448.1:p.Asn126Asp
XM_011524838.1:c.376A>G	XP_011523140.1:p.Asn126Asp
XM_011524839.1:c.166A>G	XP_011523141.1:p.Asn56Asp
XM_005257391.5:c.376A>G	XP_005257448.1:p.Asn126Asp
XM_011524839.2:c.469A>G	XP_011523141.2:p.Asn157Asp
XM_017024683.1:c.469A>G	XP_016880172.1:p.Asn157Asp
XM_024450766.1:c.469A>G	XP_024306534.1:p.Asn157Asp
NM_001002841.2:c.376A>G	NP_001002841.1:p.Asn126Asp