Canonical Allele Identifier: CA398379627

Gene: TTC19

Linked Data

• MyVariant Identifiers: chr17:g.15930831C>T (hg19) ; chr17:g.16027517C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027517C>T , CM000679.2:g.16027517C>T	GRCh38
NC_000017.10:g.15930831C>T , CM000679.1:g.15930831C>T	GRCh37
NC_000017.9:g.15871556C>T	NCBI36
NG_029806.1:g.33138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1138C>T MANE Select	ENSP00000261647.5:p.Leu380Phe
ENST00000261647.9:c.1138C>T	ENSP00000261647.5:p.Leu380Phe
ENST00000465567.1:n.1532C>T
ENST00000470649.1:c.247+815C>T	ENSP00000465627.1:n.247+815C>T
ENST00000475723.5:c.1322C>T
ENST00000481107.1:n.1806C>T
ENST00000497842.6:n.1342C>T
NM_001271420.1:c.817C>T	NP_001258349.1:p.Leu273Phe
NM_017775.3:c.1138C>T	NP_060245.3:p.Leu380Phe
XM_017024801.2:c.994+815C>T	XP_016880290.2:n.994+815C>T
XM_017024802.2:c.994+815C>T	XP_016880291.2:n.994+815C>T
NM_017775.4:c.1138C>T MANE Select	NP_060245.3:p.Leu380Phe
NM_001271420.2:c.817C>T	NP_001258349.1:p.Leu273Phe