Canonical Allele Identifier: CA398382676

Gene: TTC19

Linked Data

• MyVariant Identifiers: chr17:g.15903328C>G (hg19) ; chr17:g.16000014C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000014C>G , CM000679.2:g.16000014C>G	GRCh38
NC_000017.10:g.15903328C>G , CM000679.1:g.15903328C>G	GRCh37
NC_000017.9:g.15844053C>G	NCBI36
NG_029806.1:g.5635C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.166C>G MANE Select	ENSP00000261647.5:p.Leu56Val
ENST00000261647.9:c.166C>G	ENSP00000261647.5:p.Leu56Val
ENST00000466729.5:c.231C>G
ENST00000470399.1:c.181C>G	ENSP00000465082.1:p.Leu61Val
ENST00000475723.5:c.213C>G
ENST00000497842.6:n.191C>G
ENST00000583704.1:n.191C>G
NM_001271420.1:c.-293C>G	NP_001258349.1:n.-293C>G
NM_017775.3:c.166C>G	NP_060245.3:p.Leu56Val
XM_011523950.1:c.166C>G	XP_011522252.1:p.Leu56Val
XM_017024801.2:c.166C>G	XP_016880290.2:p.Leu56Val
XM_017024802.2:c.166C>G	XP_016880291.2:p.Leu56Val
XM_024450814.1:c.166C>G	XP_024306582.1:p.Leu56Val
NM_017775.4:c.166C>G MANE Select	NP_060245.3:p.Leu56Val
NM_001271420.2:c.-293C>G	NP_001258349.1:n.-293C>G