Canonical Allele Identifier: CA129643

Gene: TTC19

Linked Data

• ClinVar Variation Id: 31074
• ClinVar RCV Id: RCV000024068
• dbSNP Id: rs387907094
• gnomAD v4: 17-16003885-C-T
• MyVariant Identifiers: chr17:g.15907199C>T (hg19) ; chr17:g.16003885C>T (hg38)
• PubMed: PMID:21278747

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16003885C>T , CM000679.2:g.16003885C>T	GRCh38
NC_000017.10:g.15907199C>T , CM000679.1:g.15907199C>T	GRCh37
NC_000017.9:g.15847924C>T	NCBI36
NG_029806.1:g.9506C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.517C>T MANE Select	ENSP00000261647.5:p.Gln173Ter
ENST00000261647.9:c.517C>T	ENSP00000261647.5:p.Gln173Ter
ENST00000466729.5:c.855C>T
ENST00000475723.5:c.701C>T
ENST00000497842.6:n.627C>T
NM_001271420.1:c.196C>T	NP_001258349.1:p.Gln66Ter
NM_017775.3:c.517C>T	NP_060245.3:p.Gln173Ter
XM_011523950.1:c.517C>T	XP_011522252.1:p.Gln173Ter
XR_934261.1:n.2623-383G>A
XM_017024801.2:c.517C>T	XP_016880290.2:p.Gln173Ter
XM_017024802.2:c.517C>T	XP_016880291.2:p.Gln173Ter
XM_024450814.1:c.517C>T	XP_024306582.1:p.Gln173Ter
NM_017775.4:c.517C>T MANE Select	NP_060245.3:p.Gln173Ter
NM_001271420.2:c.196C>T	NP_001258349.1:p.Gln66Ter