Canonical Allele Identifier: CA398379520

Gene: TTC19

Linked Data

• gnomAD v4: 17-16027501-G-T
• MyVariant Identifiers: chr17:g.15930815G>T (hg19) ; chr17:g.16027501G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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