Canonical Allele Identifier: CA10577059

Gene: MYOM1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.3215104G>C , CM000680.2:g.3215104G>C	GRCh38
NC_000018.9:g.3215102G>C , CM000680.1:g.3215102G>C	GRCh37
NC_000018.8:g.3205102G>C	NCBI36
NG_032120.1:g.10005C>G , LRG_426:g.10005C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003803.4:c.120C>G MANE Select	NP_003794.3:p.Thr40=
ENST00000356443.9:c.120C>G MANE Select	ENSP00000348821.4:p.Thr40=
NM_003803.3:c.120C>G , LRG_426t1:c.120C>G	NP_003794.3:p.Thr40=
NM_019856.1:c.120C>G	NP_062830.1:p.Thr40=
NM_019856.2:c.120C>G	NP_062830.1:p.Thr40=
ENST00000261606.11:c.120C>G	ENSP00000261606.7:p.Thr40=
ENST00000356443.8:c.120C>G	ENSP00000348821.4:p.Thr40=
XM_017026062.1:c.120C>G	XP_016881551.1:p.Thr40=
XM_024451281.1:c.120C>G	XP_024307049.1:p.Thr40=
XR_243817.2:n.194-1888G>C
XR_935071.1:n.217C>G
XR_935071.2:n.217C>G
XR_935103.1:n.194-1888G>C