Canonical Allele Identifier: CA291225654

Gene: MYL4

Linked Data

• dbSNP Id: rs189539172
• gnomAD v2: 17-45298961-A-G
• gnomAD v3: 17-47221595-A-G
• gnomAD v4: 17-47221595-A-G
• MyVariant Identifiers: chr17:g.45298961A>G (hg19) ; chr17:g.47221595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221595A>G , CM000679.2:g.47221595A>G	GRCh38
NC_000017.10:g.45298961A>G , CM000679.1:g.45298961A>G	GRCh37
NC_000017.9:g.42653960A>G	NCBI36
NG_052847.1:g.17579A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354968.5:c.314-87A>G	ENSP00000347055.1:n.314-87A>G
ENST00000393450.5:c.314-87A>G MANE Select	ENSP00000377096.1:n.314-87A>G
ENST00000536623.6:c.314-87A>G	ENSP00000442375.2:n.314-87A>G
ENST00000570671.1:c.25-87A>G
ENST00000570772.5:c.*100-87A>G	ENSP00000458194.1:n.*100-87A>G
ENST00000571981.5:c.*100-87A>G	ENSP00000459035.1:n.*100-87A>G
ENST00000572303.1:c.407-87A>G	ENSP00000461747.1:n.407-87A>G
ENST00000572316.5:c.314-87A>G	ENSP00000461570.1:n.314-87A>G
ENST00000573747.6:c.314-137A>G	ENSP00000460734.1:n.314-137A>G
ENST00000576874.5:c.314-87A>G	ENSP00000458907.1:n.314-87A>G
NM_001002841.1:c.314-87A>G	NP_001002841.1:n.314-87A>G
NM_002476.2:c.314-87A>G MANE Select	NP_002467.1:n.314-87A>G
XM_005257391.3:c.314-87A>G	XP_005257448.1:n.314-87A>G
XM_011524838.1:c.314-87A>G	XP_011523140.1:n.314-87A>G
XM_011524839.1:c.104-87A>G	XP_011523141.1:n.104-87A>G
XM_005257391.5:c.314-87A>G	XP_005257448.1:n.314-87A>G
XM_011524839.2:c.407-87A>G	XP_011523141.2:n.407-87A>G
XM_017024683.1:c.407-87A>G	XP_016880172.1:n.407-87A>G
XM_024450766.1:c.407-87A>G	XP_024306534.1:n.407-87A>G
NM_001002841.2:c.314-87A>G	NP_001002841.1:n.314-87A>G