Canonical Allele Identifier: CA398379650

Gene: TTC19

Linked Data

• MyVariant Identifiers: chr17:g.15930835A>T (hg19) ; chr17:g.16027521A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027521A>T , CM000679.2:g.16027521A>T	GRCh38
NC_000017.10:g.15930835A>T , CM000679.1:g.15930835A>T	GRCh37
NC_000017.9:g.15871560A>T	NCBI36
NG_029806.1:g.33142A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1142A>T MANE Select	ENSP00000261647.5:p.Ter381Leu
ENST00000261647.9:c.1142A>T	ENSP00000261647.5:p.Ter381Leu
ENST00000465567.1:n.1536A>T
ENST00000470649.1:c.247+819A>T	ENSP00000465627.1:n.247+819A>T
ENST00000475723.5:c.1326A>T
ENST00000481107.1:n.1810A>T
ENST00000497842.6:n.1346A>T
NM_001271420.1:c.821A>T	NP_001258349.1:p.Ter274Leu
NM_017775.3:c.1142A>T	NP_060245.3:p.Ter381Leu
XM_017024801.2:c.994+819A>T	XP_016880290.2:n.994+819A>T
XM_017024802.2:c.994+819A>T	XP_016880291.2:n.994+819A>T
NM_017775.4:c.1142A>T MANE Select	NP_060245.3:p.Ter381Leu
NM_001271420.2:c.821A>T	NP_001258349.1:p.Ter274Leu