Canonical Allele Identifier: CA10643074

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 318140
• ClinVar RCV Id: RCV000363672 ; RCV000396157 ; RCV000834766 ; RCV001119432
• dbSNP Id: rs760023
• gnomAD v2: 16-15819055-G-A
• gnomAD v3: 16-15725198-G-A
• gnomAD v4: 16-15725198-G-A
• MyVariant Identifiers: chr16:g.15819055G>A (hg19) ; chr16:g.15725198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15725198G>A , CM000678.2:g.15725198G>A	GRCh38
NC_000016.9:g.15819055G>A , CM000678.1:g.15819055G>A	GRCh37
NC_000016.8:g.15726556G>A	NCBI36
NG_009299.1:g.136833C>T
NG_021210.1:g.86932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.3859-206C>T (MYH11) MANE Select	ENSP00000300036.5:n.3859-206C>T
ENST00000396354.6:c.*947G>A (NDE1) MANE Select	ENSP00000379642.1:n.*947G>A
ENST00000452625.7:c.3880-206C>T (MYH11) MANE Plus Clinical	ENSP00000407821.2:n.3880-206C>T
ENST00000576790.7:c.3859-206C>T (MYH11)	ENSP00000458731.1:n.3859-206C>T
ENST00000577101.6:c.2038G>A (NDE1)	ENSP00000461729.2:n.2038G>A
ENST00000652121.1:c.*2042-206C>T (MYH11)	ENSP00000498314.1:n.*2042-206C>T
ENST00000674538.1:c.*765G>A (NDE1)	ENSP00000501547.1:n.*765G>A
ENST00000674554.1:c.*868+79G>A (NDE1)	ENSP00000502635.1:n.*868+79G>A
ENST00000674581.1:c.*1014G>A (NDE1)	ENSP00000502100.1:n.*1014G>A
ENST00000674588.1:c.*765G>A (NDE1)	ENSP00000502802.1:n.*765G>A
ENST00000674888.1:c.*868+79G>A (NDE1)	ENSP00000501936.1:n.*868+79G>A
ENST00000674900.1:c.*1277+79G>A (NDE1)	ENSP00000502662.1:n.*1277+79G>A
ENST00000674995.1:c.*765G>A (NDE1)	ENSP00000502414.1:n.*765G>A
ENST00000675171.1:c.*1628+79G>A (NDE1)	ENSP00000501812.1:n.*1628+79G>A
ENST00000675926.1:c.*868+79G>A (NDE1)	ENSP00000502354.1:n.*868+79G>A
ENST00000675951.1:c.*947G>A (NDE1)	ENSP00000502160.1:n.*947G>A
ENST00000300036.5:c.3859-206C>T (MYH11)	ENSP00000300036.5:n.3859-206C>T
ENST00000342673.9:c.*947G>A (NDE1)	ENSP00000345892.5:n.*947G>A
ENST00000396324.7:c.3880-206C>T (MYH11)	ENSP00000379616.3:n.3880-206C>T
ENST00000396354.5:c.*947G>A (NDE1)	ENSP00000379642.1:n.*947G>A
ENST00000396355.5:c.*947G>A (NDE1)	ENSP00000379643.1:n.*947G>A
ENST00000452625.6:c.3880-206C>T (MYH11)	ENSP00000407821.2:n.3880-206C>T
ENST00000576790.6:c.3859-206C>T (MYH11)	ENSP00000458731.1:n.3859-206C>T
ENST00000616439.4:c.3880-206C>T (MYH11)	ENSP00000484924.1:n.3880-206C>T
NM_001040113.1:c.3880-206C>T (MYH11)	NP_001035202.1:n.3880-206C>T
NM_001040114.1:c.3880-206C>T (MYH11)	NP_001035203.1:n.3880-206C>T
NM_001143979.1:c.*947G>A (NDE1)	NP_001137451.1:n.*947G>A
NM_002474.2:c.3859-206C>T (MYH11)	NP_002465.1:n.3859-206C>T
NM_017668.2:c.*947G>A (NDE1)	NP_060138.1:n.*947G>A
NM_022844.2:c.3859-206C>T (MYH11)	NP_074035.1:n.3859-206C>T
XM_011522502.1:c.3859-206C>T (MYH11)	XP_011520804.1:n.3859-206C>T
XM_011522502.2:c.3859-206C>T (MYH11)	XP_011520804.1:n.3859-206C>T
XM_017023250.1:c.3880-206C>T (MYH11)	XP_016878739.1:n.3880-206C>T
NM_002474.3:c.3859-206C>T (MYH11) MANE Select	NP_002465.1:n.3859-206C>T
NM_017668.3:c.*947G>A (NDE1) MANE Select	NP_060138.1:n.*947G>A
NM_001040113.2:c.3880-206C>T (MYH11) MANE Plus Clinical	NP_001035202.1:n.3880-206C>T
NM_001143979.2:c.*947G>A (NDE1)	NP_001137451.1:n.*947G>A
NM_001040114.2:c.3880-206C>T (MYH11)	NP_001035203.1:n.3880-206C>T
NM_022844.3:c.3859-206C>T (MYH11)	NP_074035.1:n.3859-206C>T