Canonical Allele Identifier: CA10647949

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 318147
• ClinVar RCV Id: RCV000293125 ; RCV000352581 ; RCV001116535
• dbSNP Id: rs886051754
• MyVariant Identifiers: chr16:g.15819771C>A (hg19) ; chr16:g.15725914C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15725914C>A , CM000678.2:g.15725914C>A	GRCh38
NC_000016.9:g.15819771C>A , CM000678.1:g.15819771C>A	GRCh37
NC_000016.8:g.15727272C>A	NCBI36
NG_009299.1:g.136117G>T
NG_021210.1:g.87648C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.3859-922G>T (MYH11) MANE Select	ENSP00000300036.5:n.3859-922G>T
ENST00000396354.6:c.*1663C>A (NDE1) MANE Select	ENSP00000379642.1:n.*1663C>A
ENST00000452625.7:c.3880-922G>T (MYH11) MANE Plus Clinical	ENSP00000407821.2:n.3880-922G>T
ENST00000576790.7:c.3859-922G>T (MYH11)	ENSP00000458731.1:n.3859-922G>T
ENST00000577101.6:c.2754C>A (NDE1)	ENSP00000461729.2:n.2754C>A
ENST00000652121.1:c.*2042-922G>T (MYH11)	ENSP00000498314.1:n.*2042-922G>T
ENST00000674538.1:c.*1065+416C>A (NDE1)	ENSP00000501547.1:n.*1065+416C>A
ENST00000674554.1:c.*868+795C>A (NDE1)	ENSP00000502635.1:n.*868+795C>A
ENST00000674581.1:c.*1730C>A (NDE1)	ENSP00000502100.1:n.*1730C>A
ENST00000674588.1:c.*1481C>A (NDE1)	ENSP00000502802.1:n.*1481C>A
ENST00000674888.1:c.*868+795C>A (NDE1)	ENSP00000501936.1:n.*868+795C>A
ENST00000674900.1:c.*1277+795C>A (NDE1)	ENSP00000502662.1:n.*1277+795C>A
ENST00000674995.1:c.*1481C>A (NDE1)	ENSP00000502414.1:n.*1481C>A
ENST00000675171.1:c.*1628+795C>A (NDE1)	ENSP00000501812.1:n.*1628+795C>A
ENST00000675926.1:c.*868+795C>A (NDE1)	ENSP00000502354.1:n.*868+795C>A
ENST00000675951.1:c.*1663C>A (NDE1)	ENSP00000502160.1:n.*1663C>A
ENST00000300036.5:c.3859-922G>T (MYH11)	ENSP00000300036.5:n.3859-922G>T
ENST00000342673.9:c.*1663C>A (NDE1)	ENSP00000345892.5:n.*1663C>A
ENST00000396324.7:c.3880-922G>T (MYH11)	ENSP00000379616.3:n.3880-922G>T
ENST00000396354.5:c.*1663C>A (NDE1)	ENSP00000379642.1:n.*1663C>A
ENST00000396355.5:c.*1663C>A (NDE1)	ENSP00000379643.1:n.*1663C>A
ENST00000452625.6:c.3880-922G>T (MYH11)	ENSP00000407821.2:n.3880-922G>T
ENST00000576790.6:c.3859-922G>T (MYH11)	ENSP00000458731.1:n.3859-922G>T
ENST00000616439.4:c.3880-922G>T (MYH11)	ENSP00000484924.1:n.3880-922G>T
NM_001040113.1:c.3880-922G>T (MYH11)	NP_001035202.1:n.3880-922G>T
NM_001040114.1:c.3880-922G>T (MYH11)	NP_001035203.1:n.3880-922G>T
NM_001143979.1:c.*1663C>A (NDE1)	NP_001137451.1:n.*1663C>A
NM_002474.2:c.3859-922G>T (MYH11)	NP_002465.1:n.3859-922G>T
NM_017668.2:c.*1663C>A (NDE1)	NP_060138.1:n.*1663C>A
NM_022844.2:c.3859-922G>T (MYH11)	NP_074035.1:n.3859-922G>T
XM_011522502.1:c.3859-922G>T (MYH11)	XP_011520804.1:n.3859-922G>T
XM_011522502.2:c.3859-922G>T (MYH11)	XP_011520804.1:n.3859-922G>T
XM_017023250.1:c.3880-922G>T (MYH11)	XP_016878739.1:n.3880-922G>T
NM_002474.3:c.3859-922G>T (MYH11) MANE Select	NP_002465.1:n.3859-922G>T
NM_017668.3:c.*1663C>A (NDE1) MANE Select	NP_060138.1:n.*1663C>A
NM_001040113.2:c.3880-922G>T (MYH11) MANE Plus Clinical	NP_001035202.1:n.3880-922G>T
NM_001143979.2:c.*1663C>A (NDE1)	NP_001137451.1:n.*1663C>A
NM_001040114.2:c.3880-922G>T (MYH11)	NP_001035203.1:n.3880-922G>T
NM_022844.3:c.3859-922G>T (MYH11)	NP_074035.1:n.3859-922G>T