Canonical Allele Identifier: CA398382696

Gene: TTC19

Linked Data

• gnomAD v4: 17-16000018-T-C
• MyVariant Identifiers: chr17:g.15903332T>C (hg19) ; chr17:g.16000018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000018T>C , CM000679.2:g.16000018T>C	GRCh38
NC_000017.10:g.15903332T>C , CM000679.1:g.15903332T>C	GRCh37
NC_000017.9:g.15844057T>C	NCBI36
NG_029806.1:g.5639T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.170T>C MANE Select	ENSP00000261647.5:p.Leu57Pro
ENST00000261647.9:c.170T>C	ENSP00000261647.5:p.Leu57Pro
ENST00000466729.5:c.235T>C
ENST00000470399.1:c.185T>C	ENSP00000465082.1:p.Leu62Pro
ENST00000475723.5:c.217T>C
ENST00000497842.6:n.195T>C
ENST00000583704.1:n.195T>C
NM_001271420.1:c.-289T>C	NP_001258349.1:n.-289T>C
NM_017775.3:c.170T>C	NP_060245.3:p.Leu57Pro
XM_011523950.1:c.170T>C	XP_011522252.1:p.Leu57Pro
XM_017024801.2:c.170T>C	XP_016880290.2:p.Leu57Pro
XM_017024802.2:c.170T>C	XP_016880291.2:p.Leu57Pro
XM_024450814.1:c.170T>C	XP_024306582.1:p.Leu57Pro
NM_017775.4:c.170T>C MANE Select	NP_060245.3:p.Leu57Pro
NM_001271420.2:c.-289T>C	NP_001258349.1:n.-289T>C