Canonical Allele Identifier: CA8407477

Gene: TTC19

Linked Data

• ClinVar Variation Id: 31073
• ClinVar RCV Id: RCV000024067 ; RCV001267139 ; RCV001268690
• dbSNP Id: rs747166010
• ExAC: 17:15909862 T / G
• gnomAD v2: 17-15909862-T-G
• gnomAD v3: 17-16006548-T-G
• gnomAD v4: 17-16006548-T-G
• MyVariant Identifiers: chr17:g.15909862T>G (hg19) ; chr17:g.16006548T>G (hg38)
• PubMed: PMID:21278747

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16006548T>G , CM000679.2:g.16006548T>G	GRCh38
NC_000017.10:g.15909862T>G , CM000679.1:g.15909862T>G	GRCh37
NC_000017.9:g.15850587T>G	NCBI36
NG_029806.1:g.12169T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.656T>G MANE Select	ENSP00000261647.5:p.Leu219Ter
ENST00000261647.9:c.656T>G	ENSP00000261647.5:p.Leu219Ter
ENST00000475723.5:c.840T>G
ENST00000497842.6:n.766T>G
NM_001271420.1:c.335T>G	NP_001258349.1:p.Leu112Ter
NM_017775.3:c.656T>G	NP_060245.3:p.Leu219Ter
XM_011523950.1:c.656T>G	XP_011522252.1:p.Leu219Ter
XR_934261.1:n.1791+615A>C
XM_017024801.2:c.656T>G	XP_016880290.2:p.Leu219Ter
XM_017024802.2:c.656T>G	XP_016880291.2:p.Leu219Ter
XM_024450814.1:c.656T>G	XP_024306582.1:p.Leu219Ter
NM_017775.4:c.656T>G MANE Select	NP_060245.3:p.Leu219Ter
NM_001271420.2:c.335T>G	NP_001258349.1:p.Leu112Ter