Canonical Allele Identifier: CA398381281

Gene: ZSWIM7 TTC19

Linked Data

• gnomAD v4: 17-15999547-C-G
• MyVariant Identifiers: chr17:g.15902861C>G (hg19) ; chr17:g.15999547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999547C>G , CM000679.2:g.15999547C>G	GRCh38
NC_000017.10:g.15902861C>G , CM000679.1:g.15902861C>G	GRCh37
NC_000017.9:g.15843586C>G	NCBI36
NG_029806.1:g.5168C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.48G>C (ZSWIM7) MANE Select	ENSP00000382218.1:p.Met16Ile
ENST00000261647.9:c.-302C>G (TTC19)	ENSP00000261647.5:n.-302C>G
ENST00000399277.5:c.48G>C (ZSWIM7)	ENSP00000382218.1:p.Met16Ile
ENST00000399280.6:n.35+113G>C (ZSWIM7)
ENST00000460252.5:c.48G>C (ZSWIM7)	ENSP00000464463.1:p.Met16Ile
ENST00000460315.5:c.48G>C (ZSWIM7)	ENSP00000462590.1:p.Met16Ile
ENST00000472495.5:c.48G>C (ZSWIM7)	ENSP00000419138.1:p.Met16Ile
ENST00000474716.5:c.48G>C (ZSWIM7)	ENSP00000464500.1:p.Met16Ile
ENST00000476496.5:c.42G>C (ZSWIM7)	ENSP00000462208.1:p.Met14Ile
ENST00000486655.5:c.3G>C (ZSWIM7)	ENSP00000464371.1:p.Met1Ile
ENST00000486706.6:c.48G>C (ZSWIM7)	ENSP00000463327.1:p.Met16Ile
ENST00000490395.5:c.48G>C (ZSWIM7)	ENSP00000464605.1:p.Met16Ile
ENST00000491631.5:c.48G>C (ZSWIM7)	ENSP00000462598.1:p.Met16Ile
ENST00000495825.6:n.24+113G>C (ZSWIM7)
ENST00000497719.5:n.54+113G>C (ZSWIM7)
ENST00000579955.1:c.48G>C (ZSWIM7)	ENSP00000463444.1:p.Met16Ile
ENST00000584519.5:c.48G>C (ZSWIM7)	ENSP00000463592.1:p.Met16Ile
ENST00000585208.5:c.48G>C (ZSWIM7)	ENSP00000464227.1:p.Met16Ile
NM_001042697.1:c.48G>C (ZSWIM7)	NP_001036162.1:p.Met16Ile
NM_001042698.1:c.48G>C (ZSWIM7)	NP_001036163.1:p.Met16Ile
NM_001271420.1:c.-760C>G (TTC19)	NP_001258349.1:n.-760C>G
NM_017775.3:c.-302C>G (TTC19)	NP_060245.3:n.-302C>G
NM_001042697.2:c.48G>C (ZSWIM7) MANE Select	NP_001036162.1:p.Met16Ile
NM_001042698.2:c.48G>C (ZSWIM7)	NP_001036163.1:p.Met16Ile