Canonical Allele Identifier: CA500434115

Gene: MYL4

Linked Data

• dbSNP Id: rs1437942671
• gnomAD v2: 17-45299220-G-T
• gnomAD v4: 17-47221854-G-T
• MyVariant Identifiers: chr17:g.45299220G>T (hg19) ; chr17:g.47221854G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221854G>T , CM000679.2:g.47221854G>T	GRCh38
NC_000017.10:g.45299220G>T , CM000679.1:g.45299220G>T	GRCh37
NC_000017.9:g.42654219G>T	NCBI36
NG_052847.1:g.17838G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354968.5:c.486G>T	ENSP00000347055.1:p.Leu162=
ENST00000393450.5:c.486G>T MANE Select	ENSP00000377096.1:p.Leu162=
ENST00000536623.6:c.486G>T	ENSP00000442375.2:p.Leu162=
ENST00000570671.1:c.197G>T
ENST00000571981.5:c.*272G>T	ENSP00000459035.1:n.*272G>T
ENST00000572316.5:c.486G>T	ENSP00000461570.1:p.Leu162=
ENST00000573747.6:c.*88G>T	ENSP00000460734.1:n.*88G>T
ENST00000576874.5:c.486G>T	ENSP00000458907.1:p.Leu162=
NM_001002841.1:c.486G>T	NP_001002841.1:p.Leu162=
NM_002476.2:c.486G>T MANE Select	NP_002467.1:p.Leu162=
XM_005257391.3:c.486G>T	XP_005257448.1:p.Leu162=
XM_011524838.1:c.486G>T	XP_011523140.1:p.Leu162=
XM_011524839.1:c.276G>T	XP_011523141.1:p.Leu92=
XM_005257391.5:c.486G>T	XP_005257448.1:p.Leu162=
XM_011524839.2:c.579G>T	XP_011523141.2:p.Leu193=
XM_017024683.1:c.579G>T	XP_016880172.1:p.Leu193=
XM_024450766.1:c.579G>T	XP_024306534.1:p.Leu193=
NM_001002841.2:c.486G>T	NP_001002841.1:p.Leu162=