Canonical Allele Identifier: CA398379518

Gene: TTC19

Linked Data

• ClinVar Variation Id: 1897506
• ClinVar RCV Id: RCV002572076
• dbSNP Id: rs1371206635
• MyVariant Identifiers: chr17:g.15930815G>C (hg19) ; chr17:g.16027501G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027501G>C , CM000679.2:g.16027501G>C	GRCh38
NC_000017.10:g.15930815G>C , CM000679.1:g.15930815G>C	GRCh37
NC_000017.9:g.15871540G>C	NCBI36
NG_029806.1:g.33122G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1122G>C MANE Select	ENSP00000261647.5:p.Leu374Phe
ENST00000261647.9:c.1122G>C	ENSP00000261647.5:p.Leu374Phe
ENST00000465567.1:n.1516G>C
ENST00000470649.1:c.247+799G>C	ENSP00000465627.1:n.247+799G>C
ENST00000475723.5:c.1306G>C
ENST00000481107.1:n.1790G>C
ENST00000497842.6:n.1326G>C
NM_001271420.1:c.801G>C	NP_001258349.1:p.Leu267Phe
NM_017775.3:c.1122G>C	NP_060245.3:p.Leu374Phe
XM_017024801.2:c.994+799G>C	XP_016880290.2:n.994+799G>C
XM_017024802.2:c.994+799G>C	XP_016880291.2:n.994+799G>C
NM_017775.4:c.1122G>C MANE Select	NP_060245.3:p.Leu374Phe
NM_001271420.2:c.801G>C	NP_001258349.1:p.Leu267Phe