Canonical Allele Identifier: CA394844583

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 1421510
• ClinVar RCV Id: RCV001916949
• dbSNP Id: rs2151173196
• MyVariant Identifiers: chr16:g.15802678G>A (hg19) ; chr16:g.15708821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15708821G>A , CM000678.2:g.15708821G>A	GRCh38
NC_000016.9:g.15802678G>A , CM000678.1:g.15802678G>A	GRCh37
NC_000016.8:g.15710179G>A	NCBI36
NG_009299.1:g.153210C>T
NG_021210.1:g.70555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.5787-4698C>T (MYH11) MANE Select	ENSP00000300036.5:n.5787-4698C>T
ENST00000396354.6:c.947+11961G>A (NDE1) MANE Select	ENSP00000379642.1:n.947+11961G>A
ENST00000452625.7:c.5828C>T (MYH11) MANE Plus Clinical	ENSP00000407821.2:p.Thr1943Ile
ENST00000572756.6:c.795+14565G>A (NDE1)	ENSP00000460436.2:n.795+14565G>A
ENST00000576790.7:c.5807C>T (MYH11)	ENSP00000458731.1:p.Thr1936Ile
ENST00000577101.6:c.1030+11961G>A (NDE1)	ENSP00000461729.2:n.1030+11961G>A
ENST00000652121.1:c.*3970-4698C>T (MYH11)	ENSP00000498314.1:n.*3970-4698C>T
ENST00000674538.1:c.795+14565G>A (NDE1)	ENSP00000501547.1:n.795+14565G>A
ENST00000674554.1:c.947+11961G>A (NDE1)	ENSP00000502635.1:n.947+11961G>A
ENST00000674581.1:c.*6+11961G>A (NDE1)	ENSP00000502100.1:n.*6+11961G>A
ENST00000674588.1:c.795+14565G>A (NDE1)	ENSP00000502802.1:n.795+14565G>A
ENST00000674888.1:c.947+11961G>A (NDE1)	ENSP00000501936.1:n.947+11961G>A
ENST00000674900.1:c.*348+11961G>A (NDE1)	ENSP00000502662.1:n.*348+11961G>A
ENST00000674995.1:c.795+14565G>A (NDE1)	ENSP00000502414.1:n.795+14565G>A
ENST00000675171.1:c.*699+11961G>A (NDE1)	ENSP00000501812.1:n.*699+11961G>A
ENST00000675926.1:c.947+11961G>A (NDE1)	ENSP00000502354.1:n.947+11961G>A
ENST00000675951.1:c.947+11961G>A (NDE1)	ENSP00000502160.1:n.947+11961G>A
ENST00000300036.5:c.5787-4698C>T (MYH11)	ENSP00000300036.5:n.5787-4698C>T
ENST00000342673.9:c.947+11961G>A (NDE1)	ENSP00000345892.5:n.947+11961G>A
ENST00000396324.7:c.5808-4698C>T (MYH11)	ENSP00000379616.3:n.5808-4698C>T
ENST00000396354.5:c.947+11961G>A (NDE1)	ENSP00000379642.1:n.947+11961G>A
ENST00000396355.5:c.947+11961G>A (NDE1)	ENSP00000379643.1:n.947+11961G>A
ENST00000452625.6:c.5828C>T (MYH11)	ENSP00000407821.2:p.Thr1943Ile
ENST00000572967.1:c.452+8967G>A (NDE1)	ENSP00000459918.1:n.452+8967G>A
ENST00000573694.5:c.379+8967G>A (NDE1)
ENST00000573908.1:n.158+2292C>T (MYH11)
ENST00000576790.6:c.5807C>T (MYH11)	ENSP00000458731.1:p.Thr1936Ile
ENST00000616439.4:c.5827C>T (MYH11)	ENSP00000484924.1:p.Leu1943Phe
NM_001040113.1:c.5828C>T (MYH11)	NP_001035202.1:p.Thr1943Ile
NM_001040114.1:c.5808-4698C>T (MYH11)	NP_001035203.1:n.5808-4698C>T
NM_001143979.1:c.947+11961G>A (NDE1)	NP_001137451.1:n.947+11961G>A
NM_002474.2:c.5787-4698C>T (MYH11)	NP_002465.1:n.5787-4698C>T
NM_017668.2:c.947+11961G>A (NDE1)	NP_060138.1:n.947+11961G>A
NM_022844.2:c.5807C>T (MYH11)	NP_074035.1:p.Thr1936Ile
XM_017023250.1:c.5828C>T (MYH11)	XP_016878739.1:p.Thr1943Ile
NM_002474.3:c.5787-4698C>T (MYH11) MANE Select	NP_002465.1:n.5787-4698C>T
NM_017668.3:c.947+11961G>A (NDE1) MANE Select	NP_060138.1:n.947+11961G>A
NM_001040113.2:c.5828C>T (MYH11) MANE Plus Clinical	NP_001035202.1:p.Thr1943Ile
NM_001143979.2:c.947+11961G>A (NDE1)	NP_001137451.1:n.947+11961G>A
NM_001040114.2:c.5808-4698C>T (MYH11)	NP_001035203.1:n.5808-4698C>T
NM_022844.3:c.5807C>T (MYH11)	NP_074035.1:p.Thr1936Ile