Canonical Allele Identifier: CA400022285

Gene: MYL4

Linked Data

• gnomAD v4: 17-47221742-G-T
• MyVariant Identifiers: chr17:g.45299108G>T (hg19) ; chr17:g.47221742G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221742G>T , CM000679.2:g.47221742G>T	GRCh38
NC_000017.10:g.45299108G>T , CM000679.1:g.45299108G>T	GRCh37
NC_000017.9:g.42654107G>T	NCBI36
NG_052847.1:g.17726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354968.5:c.374G>T	ENSP00000347055.1:p.Arg125Leu
ENST00000393450.5:c.374G>T MANE Select	ENSP00000377096.1:p.Arg125Leu
ENST00000536623.6:c.374G>T	ENSP00000442375.2:p.Arg125Leu
ENST00000570671.1:c.85G>T
ENST00000570772.5:c.*160G>T	ENSP00000458194.1:n.*160G>T
ENST00000571981.5:c.*160G>T	ENSP00000459035.1:n.*160G>T
ENST00000572303.1:c.467G>T	ENSP00000461747.1:p.Arg156Leu
ENST00000572316.5:c.374G>T	ENSP00000461570.1:p.Arg125Leu
ENST00000573747.6:c.324G>T	ENSP00000460734.1:p.Pro108=
ENST00000576874.5:c.374G>T	ENSP00000458907.1:p.Arg125Leu
NM_001002841.1:c.374G>T	NP_001002841.1:p.Arg125Leu
NM_002476.2:c.374G>T MANE Select	NP_002467.1:p.Arg125Leu
XM_005257391.3:c.374G>T	XP_005257448.1:p.Arg125Leu
XM_011524838.1:c.374G>T	XP_011523140.1:p.Arg125Leu
XM_011524839.1:c.164G>T	XP_011523141.1:p.Arg55Leu
XM_005257391.5:c.374G>T	XP_005257448.1:p.Arg125Leu
XM_011524839.2:c.467G>T	XP_011523141.2:p.Arg156Leu
XM_017024683.1:c.467G>T	XP_016880172.1:p.Arg156Leu
XM_024450766.1:c.467G>T	XP_024306534.1:p.Arg156Leu
NM_001002841.2:c.374G>T	NP_001002841.1:p.Arg125Leu