Canonical Allele Identifier: CA400022171

Gene: MYL4

Linked Data

• dbSNP Id: rs1244746710
• gnomAD v2: 17-45299056-G-A
• gnomAD v4: 17-47221690-G-A
• MyVariant Identifiers: chr17:g.45299056G>A (hg19) ; chr17:g.47221690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221690G>A , CM000679.2:g.47221690G>A	GRCh38
NC_000017.10:g.45299056G>A , CM000679.1:g.45299056G>A	GRCh37
NC_000017.9:g.42654055G>A	NCBI36
NG_052847.1:g.17674G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354968.5:c.322G>A	ENSP00000347055.1:p.Val108Ile
ENST00000393450.5:c.322G>A MANE Select	ENSP00000377096.1:p.Val108Ile
ENST00000536623.6:c.322G>A	ENSP00000442375.2:p.Val108Ile
ENST00000570671.1:c.33G>A
ENST00000570772.5:c.*108G>A	ENSP00000458194.1:n.*108G>A
ENST00000571981.5:c.*108G>A	ENSP00000459035.1:n.*108G>A
ENST00000572303.1:c.415G>A	ENSP00000461747.1:p.Val139Ile
ENST00000572316.5:c.322G>A	ENSP00000461570.1:p.Val108Ile
ENST00000573747.6:c.314-42G>A	ENSP00000460734.1:n.314-42G>A
ENST00000576874.5:c.322G>A	ENSP00000458907.1:p.Val108Ile
NM_001002841.1:c.322G>A	NP_001002841.1:p.Val108Ile
NM_002476.2:c.322G>A MANE Select	NP_002467.1:p.Val108Ile
XM_005257391.3:c.322G>A	XP_005257448.1:p.Val108Ile
XM_011524838.1:c.322G>A	XP_011523140.1:p.Val108Ile
XM_011524839.1:c.112G>A	XP_011523141.1:p.Val38Ile
XM_005257391.5:c.322G>A	XP_005257448.1:p.Val108Ile
XM_011524839.2:c.415G>A	XP_011523141.2:p.Val139Ile
XM_017024683.1:c.415G>A	XP_016880172.1:p.Val139Ile
XM_024450766.1:c.415G>A	XP_024306534.1:p.Val139Ile
NM_001002841.2:c.322G>A	NP_001002841.1:p.Val108Ile