Canonical Allele Identifier: CA321143

Gene: TTC19

Linked Data

• ClinVar Variation Id: 215305
• ClinVar RCV Id: RCV003389321
• dbSNP Id: rs192522753
• ExAC: 17:15930690 C / T
• gnomAD v2: 17-15930690-C-T
• gnomAD v3: 17-16027376-C-T
• gnomAD v4: 17-16027376-C-T
• MyVariant Identifiers: chr17:g.15930690C>T (hg19) ; chr17:g.16027376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027376C>T , CM000679.2:g.16027376C>T	GRCh38
NC_000017.10:g.15930690C>T , CM000679.1:g.15930690C>T	GRCh37
NC_000017.9:g.15871415C>T	NCBI36
NG_029806.1:g.32997C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.997C>T MANE Select	ENSP00000261647.5:p.Arg333Ter
ENST00000261647.9:c.997C>T	ENSP00000261647.5:p.Arg333Ter
ENST00000465567.1:n.1391C>T
ENST00000470649.1:c.247+674C>T	ENSP00000465627.1:n.247+674C>T
ENST00000475723.5:c.1181C>T
ENST00000481107.1:n.1665C>T
ENST00000497842.6:n.1201C>T
NM_001271420.1:c.676C>T	NP_001258349.1:p.Arg226Ter
NM_017775.3:c.997C>T	NP_060245.3:p.Arg333Ter
XM_017024801.2:c.994+674C>T	XP_016880290.2:n.994+674C>T
XM_017024802.2:c.994+674C>T	XP_016880291.2:n.994+674C>T
NM_017775.4:c.997C>T MANE Select	NP_060245.3:p.Arg333Ter
NM_001271420.2:c.676C>T	NP_001258349.1:p.Arg226Ter