Canonical Allele Identifier: CA7921938

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 674448
• ClinVar RCV Id: RCV000833766
• dbSNP Id: rs75139720
• ExAC: 16:15826384 T / C
• gnomAD v2: 16-15826384-T-C
• gnomAD v3: 16-15732527-T-C
• gnomAD v4: 16-15732527-T-C
• MyVariant Identifiers: chr16:g.15826384T>C (hg19) ; chr16:g.15732527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15732527T>C , CM000678.2:g.15732527T>C	GRCh38
NC_000016.9:g.15826384T>C , CM000678.1:g.15826384T>C	GRCh37
NC_000016.8:g.15733885T>C	NCBI36
NG_009299.1:g.129504A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000300036.6:c.3651+37A>G (MYH11) MANE Select	ENSP00000300036.5:n.3651+37A>G
ENST00000452625.7:c.3672+37A>G (MYH11) MANE Plus Clinical	ENSP00000407821.2:n.3672+37A>G
ENST00000576790.7:c.3651+37A>G (MYH11)	ENSP00000458731.1:n.3651+37A>G
ENST00000652121.1:c.*1834+37A>G (MYH11)	ENSP00000498314.1:n.*1834+37A>G
ENST00000674538.1:c.*1411T>C (NDE1)	ENSP00000501547.1:n.*1411T>C
ENST00000674554.1:c.*911T>C (NDE1)	ENSP00000502635.1:n.*911T>C
ENST00000674588.1:c.*2610T>C (NDE1)	ENSP00000502802.1:n.*2610T>C
ENST00000674888.1:c.*911T>C (NDE1)	ENSP00000501936.1:n.*911T>C
ENST00000674900.1:c.*1320T>C (NDE1)	ENSP00000502662.1:n.*1320T>C
ENST00000674995.1:c.*2610T>C (NDE1)	ENSP00000502414.1:n.*2610T>C
ENST00000675171.1:c.*1671T>C (NDE1)	ENSP00000501812.1:n.*1671T>C
ENST00000675926.1:c.*911T>C (NDE1)	ENSP00000502354.1:n.*911T>C
ENST00000675951.1:c.*2792T>C (NDE1)	ENSP00000502160.1:n.*2792T>C
ENST00000300036.5:c.3651+37A>G (MYH11)	ENSP00000300036.5:n.3651+37A>G
ENST00000396324.7:c.3672+37A>G (MYH11)	ENSP00000379616.3:n.3672+37A>G
ENST00000452625.6:c.3672+37A>G (MYH11)	ENSP00000407821.2:n.3672+37A>G
ENST00000576790.6:c.3651+37A>G (MYH11)	ENSP00000458731.1:n.3651+37A>G
ENST00000616439.4:c.3672+37A>G (MYH11)	ENSP00000484924.1:n.3672+37A>G
NM_001040113.1:c.3672+37A>G (MYH11)	NP_001035202.1:n.3672+37A>G
NM_001040114.1:c.3672+37A>G (MYH11)	NP_001035203.1:n.3672+37A>G
NM_002474.2:c.3651+37A>G (MYH11)	NP_002465.1:n.3651+37A>G
NM_022844.2:c.3651+37A>G (MYH11)	NP_074035.1:n.3651+37A>G
XM_011522502.1:c.3651+37A>G (MYH11)	XP_011520804.1:n.3651+37A>G
XM_011522502.2:c.3651+37A>G (MYH11)	XP_011520804.1:n.3651+37A>G
XM_017023250.1:c.3672+37A>G (MYH11)	XP_016878739.1:n.3672+37A>G
NM_002474.3:c.3651+37A>G (MYH11) MANE Select	NP_002465.1:n.3651+37A>G
NM_001040113.2:c.3672+37A>G (MYH11) MANE Plus Clinical	NP_001035202.1:n.3672+37A>G
NM_001040114.2:c.3672+37A>G (MYH11)	NP_001035203.1:n.3672+37A>G
NM_022844.3:c.3651+37A>G (MYH11)	NP_074035.1:n.3651+37A>G