Canonical Allele Identifier: CA8407239

Gene: TTC19

Linked Data

• ClinVar Variation Id: 382625
• ClinVar RCV Id: RCV000904924
• dbSNP Id: rs773742878
• ExAC: 17:15903249 C / T
• gnomAD v2: 17-15903249-C-T
• gnomAD v3: 17-15999935-C-T
• gnomAD v4: 17-15999935-C-T
• MyVariant Identifiers: chr17:g.15903249C>T (hg19) ; chr17:g.15999935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999935C>T , CM000679.2:g.15999935C>T	GRCh38
NC_000017.10:g.15903249C>T , CM000679.1:g.15903249C>T	GRCh37
NC_000017.9:g.15843974C>T	NCBI36
NG_029806.1:g.5556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.87C>T MANE Select	ENSP00000261647.5:p.Leu29=
ENST00000261647.9:c.87C>T	ENSP00000261647.5:p.Leu29=
ENST00000466729.5:c.152C>T
ENST00000470399.1:c.102C>T	ENSP00000465082.1:p.Leu34=
ENST00000475723.5:c.134C>T
ENST00000497842.6:n.112C>T
ENST00000583704.1:n.112C>T
NM_001271420.1:c.-372C>T	NP_001258349.1:n.-372C>T
NM_017775.3:c.87C>T	NP_060245.3:p.Leu29=
XM_011523950.1:c.87C>T	XP_011522252.1:p.Leu29=
XM_017024801.2:c.87C>T	XP_016880290.2:p.Leu29=
XM_017024802.2:c.87C>T	XP_016880291.2:p.Leu29=
XM_024450814.1:c.87C>T	XP_024306582.1:p.Leu29=
NM_017775.4:c.87C>T MANE Select	NP_060245.3:p.Leu29=
NM_001271420.2:c.-372C>T	NP_001258349.1:n.-372C>T