Canonical Allele Identifier: CA2638433067

Gene: MYL4

Linked Data

• gnomAD v4: 17-47221909-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221909G>T , CM000679.2:g.47221909G>T	GRCh38
NC_000017.10:g.45299275G>T , CM000679.1:g.45299275G>T	GRCh37
NC_000017.9:g.42654274G>T	NCBI36
NG_052847.1:g.17893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354968.5:c.487+54G>T	ENSP00000347055.1:n.487+54G>T
ENST00000393450.5:c.487+54G>T MANE Select	ENSP00000377096.1:n.487+54G>T
ENST00000536623.6:c.487+54G>T	ENSP00000442375.2:n.487+54G>T
ENST00000570671.1:c.198+54G>T
ENST00000571981.5:c.*273+54G>T	ENSP00000459035.1:n.*273+54G>T
ENST00000572316.5:c.487+54G>T	ENSP00000461570.1:n.487+54G>T
ENST00000573747.6:c.*89+54G>T	ENSP00000460734.1:n.*89+54G>T
ENST00000576874.5:c.487+54G>T	ENSP00000458907.1:n.487+54G>T
NM_001002841.1:c.487+54G>T	NP_001002841.1:n.487+54G>T
NM_002476.2:c.487+54G>T MANE Select	NP_002467.1:n.487+54G>T
XM_005257391.3:c.487+54G>T	XP_005257448.1:n.487+54G>T
XM_011524838.1:c.487+54G>T	XP_011523140.1:n.487+54G>T
XM_011524839.1:c.277+54G>T	XP_011523141.1:n.277+54G>T
XM_005257391.5:c.487+54G>T	XP_005257448.1:n.487+54G>T
XM_011524839.2:c.580+54G>T	XP_011523141.2:n.580+54G>T
XM_017024683.1:c.580+54G>T	XP_016880172.1:n.580+54G>T
XM_024450766.1:c.580+54G>T	XP_024306534.1:n.580+54G>T
NM_001002841.2:c.487+54G>T	NP_001002841.1:n.487+54G>T