Canonical Allele Identifier: CA400022200

Gene: MYL4

Linked Data

• dbSNP Id: rs1393147280
• gnomAD v4: 17-47221702-G-C
• MyVariant Identifiers: chr17:g.45299068G>C (hg19) ; chr17:g.47221702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221702G>C , CM000679.2:g.47221702G>C	GRCh38
NC_000017.10:g.45299068G>C , CM000679.1:g.45299068G>C	GRCh37
NC_000017.9:g.42654067G>C	NCBI36
NG_052847.1:g.17686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354968.5:c.334G>C	ENSP00000347055.1:p.Asp112His
ENST00000393450.5:c.334G>C MANE Select	ENSP00000377096.1:p.Asp112His
ENST00000536623.6:c.334G>C	ENSP00000442375.2:p.Asp112His
ENST00000570671.1:c.45G>C
ENST00000570772.5:c.*120G>C	ENSP00000458194.1:n.*120G>C
ENST00000571981.5:c.*120G>C	ENSP00000459035.1:n.*120G>C
ENST00000572303.1:c.427G>C	ENSP00000461747.1:p.Asp143His
ENST00000572316.5:c.334G>C	ENSP00000461570.1:p.Asp112His
ENST00000573747.6:c.314-30G>C	ENSP00000460734.1:n.314-30G>C
ENST00000576874.5:c.334G>C	ENSP00000458907.1:p.Asp112His
NM_001002841.1:c.334G>C	NP_001002841.1:p.Asp112His
NM_002476.2:c.334G>C MANE Select	NP_002467.1:p.Asp112His
XM_005257391.3:c.334G>C	XP_005257448.1:p.Asp112His
XM_011524838.1:c.334G>C	XP_011523140.1:p.Asp112His
XM_011524839.1:c.124G>C	XP_011523141.1:p.Asp42His
XM_005257391.5:c.334G>C	XP_005257448.1:p.Asp112His
XM_011524839.2:c.427G>C	XP_011523141.2:p.Asp143His
XM_017024683.1:c.427G>C	XP_016880172.1:p.Asp143His
XM_024450766.1:c.427G>C	XP_024306534.1:p.Asp143His
NM_001002841.2:c.334G>C	NP_001002841.1:p.Asp112His