Canonical Allele Identifier: CA288187713

Gene: ZSWIM7 TTC19

Linked Data

• dbSNP Id: rs866548461
• gnomAD v4: 17-15999545-G-A
• MyVariant Identifiers: chr17:g.15902859G>A (hg19) ; chr17:g.15999545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999545G>A , CM000679.2:g.15999545G>A	GRCh38
NC_000017.10:g.15902859G>A , CM000679.1:g.15902859G>A	GRCh37
NC_000017.9:g.15843584G>A	NCBI36
NG_029806.1:g.5166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.50C>T (ZSWIM7) MANE Select	ENSP00000382218.1:p.Ala17Val
ENST00000261647.9:c.-304G>A (TTC19)	ENSP00000261647.5:n.-304G>A
ENST00000399277.5:c.50C>T (ZSWIM7)	ENSP00000382218.1:p.Ala17Val
ENST00000399280.6:n.35+115C>T (ZSWIM7)
ENST00000460252.5:c.50C>T (ZSWIM7)	ENSP00000464463.1:p.Ala17Val
ENST00000460315.5:c.50C>T (ZSWIM7)	ENSP00000462590.1:p.Ala17Val
ENST00000472495.5:c.50C>T (ZSWIM7)	ENSP00000419138.1:p.Ala17Val
ENST00000474716.5:c.50C>T (ZSWIM7)	ENSP00000464500.1:p.Ala17Val
ENST00000476496.5:c.44C>T (ZSWIM7)	ENSP00000462208.1:p.Ala15Val
ENST00000486655.5:c.5C>T (ZSWIM7)	ENSP00000464371.1:p.Ala2Val
ENST00000486706.6:c.50C>T (ZSWIM7)	ENSP00000463327.1:p.Ala17Val
ENST00000490395.5:c.50C>T (ZSWIM7)	ENSP00000464605.1:p.Ala17Val
ENST00000491631.5:c.50C>T (ZSWIM7)	ENSP00000462598.1:p.Ala17Val
ENST00000495825.6:n.24+115C>T (ZSWIM7)
ENST00000497719.5:n.54+115C>T (ZSWIM7)
ENST00000579955.1:c.50C>T (ZSWIM7)	ENSP00000463444.1:p.Ala17Val
ENST00000584519.5:c.50C>T (ZSWIM7)	ENSP00000463592.1:p.Ala17Val
ENST00000585208.5:c.50C>T (ZSWIM7)	ENSP00000464227.1:p.Ala17Val
NM_001042697.1:c.50C>T (ZSWIM7)	NP_001036162.1:p.Ala17Val
NM_001042698.1:c.50C>T (ZSWIM7)	NP_001036163.1:p.Ala17Val
NM_001271420.1:c.-762G>A (TTC19)	NP_001258349.1:n.-762G>A
NM_017775.3:c.-304G>A (TTC19)	NP_060245.3:n.-304G>A
NM_001042697.2:c.50C>T (ZSWIM7) MANE Select	NP_001036162.1:p.Ala17Val
NM_001042698.2:c.50C>T (ZSWIM7)	NP_001036163.1:p.Ala17Val