Canonical Allele Identifier: CA398382679

Gene: TTC19

Linked Data

• MyVariant Identifiers: chr17:g.15903329T>A (hg19) ; chr17:g.16000015T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000015T>A , CM000679.2:g.16000015T>A	GRCh38
NC_000017.10:g.15903329T>A , CM000679.1:g.15903329T>A	GRCh37
NC_000017.9:g.15844054T>A	NCBI36
NG_029806.1:g.5636T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.167T>A MANE Select	ENSP00000261647.5:p.Leu56Gln
ENST00000261647.9:c.167T>A	ENSP00000261647.5:p.Leu56Gln
ENST00000466729.5:c.232T>A
ENST00000470399.1:c.182T>A	ENSP00000465082.1:p.Leu61Gln
ENST00000475723.5:c.214T>A
ENST00000497842.6:n.192T>A
ENST00000583704.1:n.192T>A
NM_001271420.1:c.-292T>A	NP_001258349.1:n.-292T>A
NM_017775.3:c.167T>A	NP_060245.3:p.Leu56Gln
XM_011523950.1:c.167T>A	XP_011522252.1:p.Leu56Gln
XM_017024801.2:c.167T>A	XP_016880290.2:p.Leu56Gln
XM_017024802.2:c.167T>A	XP_016880291.2:p.Leu56Gln
XM_024450814.1:c.167T>A	XP_024306582.1:p.Leu56Gln
NM_017775.4:c.167T>A MANE Select	NP_060245.3:p.Leu56Gln
NM_001271420.2:c.-292T>A	NP_001258349.1:n.-292T>A