Canonical Allele Identifier: CA400022255

Gene: MYL4

Linked Data

• dbSNP Id: rs2064857234
• MyVariant Identifiers: chr17:g.45299093T>C (hg19) ; chr17:g.47221727T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221727T>C , CM000679.2:g.47221727T>C	GRCh38
NC_000017.10:g.45299093T>C , CM000679.1:g.45299093T>C	GRCh37
NC_000017.9:g.42654092T>C	NCBI36
NG_052847.1:g.17711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354968.5:c.359T>C	ENSP00000347055.1:p.Leu120Pro
ENST00000393450.5:c.359T>C MANE Select	ENSP00000377096.1:p.Leu120Pro
ENST00000536623.6:c.359T>C	ENSP00000442375.2:p.Leu120Pro
ENST00000570671.1:c.70T>C
ENST00000570772.5:c.*145T>C	ENSP00000458194.1:n.*145T>C
ENST00000571981.5:c.*145T>C	ENSP00000459035.1:n.*145T>C
ENST00000572303.1:c.452T>C	ENSP00000461747.1:p.Leu151Pro
ENST00000572316.5:c.359T>C	ENSP00000461570.1:p.Leu120Pro
ENST00000573747.6:c.314-5T>C	ENSP00000460734.1:n.314-5T>C
ENST00000576874.5:c.359T>C	ENSP00000458907.1:p.Leu120Pro
NM_001002841.1:c.359T>C	NP_001002841.1:p.Leu120Pro
NM_002476.2:c.359T>C MANE Select	NP_002467.1:p.Leu120Pro
XM_005257391.3:c.359T>C	XP_005257448.1:p.Leu120Pro
XM_011524838.1:c.359T>C	XP_011523140.1:p.Leu120Pro
XM_011524839.1:c.149T>C	XP_011523141.1:p.Leu50Pro
XM_005257391.5:c.359T>C	XP_005257448.1:p.Leu120Pro
XM_011524839.2:c.452T>C	XP_011523141.2:p.Leu151Pro
XM_017024683.1:c.452T>C	XP_016880172.1:p.Leu151Pro
XM_024450766.1:c.452T>C	XP_024306534.1:p.Leu151Pro
NM_001002841.2:c.359T>C	NP_001002841.1:p.Leu120Pro