Canonical Allele Identifier: CA2739521033
Gene: ZSWIM7 HGNC NCBI
TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15999505C>G , CM000679.2:g.15999505C>G GRCh38
NC_000017.10:g.15902819C>G , CM000679.1:g.15902819C>G GRCh37
NC_000017.9:g.15843544C>G NCBI36
NG_029806.1:g.5126C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399277.6:c.76+14G>C (ZSWIM7) MANE Select ENSP00000382218.1:n.76+14G>C
ENST00000261647.9:c.-344C>G (TTC19) ENSP00000261647.5:n.-344C>G
ENST00000399277.5:c.76+14G>C (ZSWIM7) ENSP00000382218.1:n.76+14G>C
ENST00000399280.6:n.35+155G>C (ZSWIM7)
ENST00000460252.5:c.90G>C (ZSWIM7) ENSP00000464463.1:p.Arg30Ser
ENST00000460315.5:c.90G>C (ZSWIM7) ENSP00000462590.1:p.Arg30Ser
ENST00000472495.5:c.76+14G>C (ZSWIM7) ENSP00000419138.1:n.76+14G>C
ENST00000474716.5:c.89+1G>C (ZSWIM7) ENSP00000464500.1:n.89+1G>C
ENST00000476496.5:c.84G>C (ZSWIM7) ENSP00000462208.1:p.Arg28Ser
ENST00000486655.5:c.31+14G>C (ZSWIM7) ENSP00000464371.1:n.31+14G>C
ENST00000486706.6:c.89+1G>C (ZSWIM7) ENSP00000463327.1:n.89+1G>C
ENST00000490395.5:c.89+1G>C (ZSWIM7) ENSP00000464605.1:n.89+1G>C
ENST00000491631.5:c.89+1G>C (ZSWIM7) ENSP00000462598.1:n.89+1G>C
ENST00000495825.6:n.24+155G>C (ZSWIM7)
ENST00000497719.5:n.54+155G>C (ZSWIM7)
ENST00000579955.1:c.89+1G>C (ZSWIM7) ENSP00000463444.1:n.89+1G>C
ENST00000584519.5:c.76+14G>C (ZSWIM7) ENSP00000463592.1:n.76+14G>C
ENST00000585208.5:c.89+1G>C (ZSWIM7) ENSP00000464227.1:n.89+1G>C
NM_001042697.1:c.76+14G>C (ZSWIM7) NP_001036162.1:n.76+14G>C
NM_001042698.1:c.76+14G>C (ZSWIM7) NP_001036163.1:n.76+14G>C
NM_001271420.1:c.-802C>G (TTC19) NP_001258349.1:n.-802C>G
NM_017775.3:c.-344C>G (TTC19) NP_060245.3:n.-344C>G
NM_001042697.2:c.76+14G>C (ZSWIM7) MANE Select NP_001036162.1:n.76+14G>C
NM_001042698.2:c.76+14G>C (ZSWIM7) NP_001036163.1:n.76+14G>C