Canonical Allele Identifier: CA145392

Gene: MAK16 TTI2

Linked Data

• ClinVar Variation Id: 88868
• ClinVar RCV Id: RCV000074457
• dbSNP Id: rs398122367
• MyVariant Identifiers: chr8:g.33357961A>T (hg19) ; chr8:g.33500443A>T (hg38)
• PubMed: PMID:23956177

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.33500443A>T , CM000670.2:g.33500443A>T	GRCh38
NC_000008.10:g.33357961A>T , CM000670.1:g.33357961A>T	GRCh37
NC_000008.9:g.33477503A>T	NCBI36
NG_033257.1:g.17743T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360128.11:c.*1814A>T (MAK16) MANE Select	ENSP00000353246.5:n.*1814A>T
ENST00000431156.7:c.1307T>A (TTI2) MANE Select	ENSP00000411169.3:p.Ile436Asn
ENST00000360128.10:c.*1814A>T (MAK16)	ENSP00000353246.5:n.*1814A>T
ENST00000360742.9:c.1307T>A (TTI2)	ENSP00000353971.5:p.Ile436Asn
ENST00000431156.6:c.1307T>A (TTI2)	ENSP00000411169.2:p.Ile436Asn
ENST00000519356.1:n.513T>A (TTI2)
ENST00000520636.5:c.1214T>A (TTI2)	ENSP00000428401.1:p.Ile405Asn
ENST00000613904.1:c.1307T>A (TTI2)	ENSP00000478396.1:p.Ile436Asn
NM_001102401.2:c.1307T>A (TTI2)	NP_001095871.1:p.Ile436Asn
NM_001265581.1:c.1307T>A (TTI2)	NP_001252510.1:p.Ile436Asn
NM_025115.3:c.1307T>A (TTI2)	NP_079391.2:p.Ile436Asn
NM_032509.3:c.*1814A>T (MAK16)	NP_115898.2:n.*1814A>T
XM_011544665.1:c.1214T>A (TTI2)	XP_011542967.1:p.Ile405Asn
NM_001330505.1:c.1214T>A (TTI2)	NP_001317434.1:p.Ile405Asn
NM_032509.4:c.*1814A>T (MAK16) MANE Select	NP_115898.2:n.*1814A>T
NM_001102401.4:c.1307T>A (TTI2) MANE Select	NP_001095871.1:p.Ile436Asn
NM_001265581.2:c.1307T>A (TTI2)	NP_001252510.1:p.Ile436Asn
NM_001330505.3:c.1214T>A (TTI2)	NP_001317434.1:p.Ile405Asn
NM_025115.5:c.1307T>A (TTI2)	NP_079391.2:p.Ile436Asn