Canonical Allele Identifier: CA398382324

Gene: TTC19

Linked Data

• ClinVar Variation Id: 1392567
• ClinVar RCV Id: RCV001896288
• dbSNP Id: rs1970663653
• gnomAD v3: 17-15999937-C-T
• gnomAD v4: 17-15999937-C-T
• MyVariant Identifiers: chr17:g.15903251C>T (hg19) ; chr17:g.15999937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999937C>T , CM000679.2:g.15999937C>T	GRCh38
NC_000017.10:g.15903251C>T , CM000679.1:g.15903251C>T	GRCh37
NC_000017.9:g.15843976C>T	NCBI36
NG_029806.1:g.5558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.89C>T MANE Select	ENSP00000261647.5:p.Pro30Leu
ENST00000261647.9:c.89C>T	ENSP00000261647.5:p.Pro30Leu
ENST00000466729.5:c.154C>T
ENST00000470399.1:c.104C>T	ENSP00000465082.1:p.Pro35Leu
ENST00000475723.5:c.136C>T
ENST00000497842.6:n.114C>T
ENST00000583704.1:n.114C>T
NM_001271420.1:c.-370C>T	NP_001258349.1:n.-370C>T
NM_017775.3:c.89C>T	NP_060245.3:p.Pro30Leu
XM_011523950.1:c.89C>T	XP_011522252.1:p.Pro30Leu
XM_017024801.2:c.89C>T	XP_016880290.2:p.Pro30Leu
XM_017024802.2:c.89C>T	XP_016880291.2:p.Pro30Leu
XM_024450814.1:c.89C>T	XP_024306582.1:p.Pro30Leu
NM_017775.4:c.89C>T MANE Select	NP_060245.3:p.Pro30Leu
NM_001271420.2:c.-370C>T	NP_001258349.1:n.-370C>T