Canonical Allele Identifier: CA400022244

Gene: MYL4

Linked Data

• dbSNP Id: rs537576399
• gnomAD v2: 17-45299087-C-T
• gnomAD v4: 17-47221721-C-T
• MyVariant Identifiers: chr17:g.45299087C>T (hg19) ; chr17:g.47221721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221721C>T , CM000679.2:g.47221721C>T	GRCh38
NC_000017.10:g.45299087C>T , CM000679.1:g.45299087C>T	GRCh37
NC_000017.9:g.42654086C>T	NCBI36
NG_052847.1:g.17705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354968.5:c.353C>T	ENSP00000347055.1:p.Pro118Leu
ENST00000393450.5:c.353C>T MANE Select	ENSP00000377096.1:p.Pro118Leu
ENST00000536623.6:c.353C>T	ENSP00000442375.2:p.Pro118Leu
ENST00000570671.1:c.64C>T
ENST00000570772.5:c.*139C>T	ENSP00000458194.1:n.*139C>T
ENST00000571981.5:c.*139C>T	ENSP00000459035.1:n.*139C>T
ENST00000572303.1:c.446C>T	ENSP00000461747.1:p.Pro149Leu
ENST00000572316.5:c.353C>T	ENSP00000461570.1:p.Pro118Leu
ENST00000573747.6:c.314-11C>T	ENSP00000460734.1:n.314-11C>T
ENST00000576874.5:c.353C>T	ENSP00000458907.1:p.Pro118Leu
NM_001002841.1:c.353C>T	NP_001002841.1:p.Pro118Leu
NM_002476.2:c.353C>T MANE Select	NP_002467.1:p.Pro118Leu
XM_005257391.3:c.353C>T	XP_005257448.1:p.Pro118Leu
XM_011524838.1:c.353C>T	XP_011523140.1:p.Pro118Leu
XM_011524839.1:c.143C>T	XP_011523141.1:p.Pro48Leu
XM_005257391.5:c.353C>T	XP_005257448.1:p.Pro118Leu
XM_011524839.2:c.446C>T	XP_011523141.2:p.Pro149Leu
XM_017024683.1:c.446C>T	XP_016880172.1:p.Pro149Leu
XM_024450766.1:c.446C>T	XP_024306534.1:p.Pro149Leu
NM_001002841.2:c.353C>T	NP_001002841.1:p.Pro118Leu