Canonical Allele Identifier: CA2249814686
Gene: ZSWIM7 HGNC NCBI
TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15999556C= , CM000679.2:g.15999556C= GRCh38
NC_000017.10:g.15902870C= , CM000679.1:g.15902870C= GRCh37
NC_000017.9:g.15843595C= NCBI36
NG_029806.1:g.5177C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000399277.6:c.39G= (ZSWIM7) MANE Select ENSP00000382218.1:p.Leu13=
ENST00000261647.9:c.-293C= (TTC19) ENSP00000261647.5:n.-293C=
ENST00000399277.5:c.39G= (ZSWIM7) ENSP00000382218.1:p.Leu13=
ENST00000399280.6:n.35+104G= (ZSWIM7)
ENST00000460252.5:c.39G= (ZSWIM7) ENSP00000464463.1:p.Leu13=
ENST00000460315.5:c.39G= (ZSWIM7) ENSP00000462590.1:p.Leu13=
ENST00000472495.5:c.39G= (ZSWIM7) ENSP00000419138.1:p.Leu13=
ENST00000474716.5:c.39G= (ZSWIM7) ENSP00000464500.1:p.Leu13=
ENST00000476496.5:c.33G= (ZSWIM7) ENSP00000462208.1:p.Leu11=
ENST00000486655.5:c.-7G= (ZSWIM7) ENSP00000464371.1:n.-7G=
ENST00000486706.6:c.39G= (ZSWIM7) ENSP00000463327.1:p.Leu13=
ENST00000490395.5:c.39G= (ZSWIM7) ENSP00000464605.1:p.Leu13=
ENST00000491631.5:c.39G= (ZSWIM7) ENSP00000462598.1:p.Leu13=
ENST00000495825.6:n.24+104G= (ZSWIM7)
ENST00000497719.5:n.54+104G= (ZSWIM7)
ENST00000579955.1:c.39G= (ZSWIM7) ENSP00000463444.1:p.Leu13=
ENST00000584519.5:c.39G= (ZSWIM7) ENSP00000463592.1:p.Leu13=
ENST00000585208.5:c.39G= (ZSWIM7) ENSP00000464227.1:p.Leu13=
NM_001042697.1:c.39G= (ZSWIM7) NP_001036162.1:p.Leu13=
NM_001042698.1:c.39G= (ZSWIM7) NP_001036163.1:p.Leu13=
NM_001271420.1:c.-751C= (TTC19) NP_001258349.1:n.-751C=
NM_017775.3:c.-293C= (TTC19) NP_060245.3:n.-293C=
NM_001042697.2:c.39G= (ZSWIM7) MANE Select NP_001036162.1:p.Leu13=
NM_001042698.2:c.39G= (ZSWIM7) NP_001036163.1:p.Leu13=