Canonical Allele Identifier: CA290115831

Gene: PIGW MYO19

Linked Data

• ClinVar Variation Id: 445649
• ClinVar RCV Id: RCV000514462 ; RCV001857868
• dbSNP Id: rs770634248
• gnomAD v3: 17-36537382-T-A
• gnomAD v4: 17-36537382-T-A
• MyVariant Identifiers: chr17:g.36537382T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.36537382T>A , CM000679.2:g.36537382T>A	GRCh38
NC_000017.9:g.31967344T>A	NCBI36
NG_052004.1:g.7621T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614443.2:c.281T>A (PIGW) MANE Select	ENSP00000482202.1:p.Leu94Ter
ENST00000610496.1:n.396-3278A>T (MYO19)
ENST00000614443.1:c.281T>A (PIGW)	ENSP00000482202.1:p.Leu94Ter
ENST00000617167.1:n.164-1749A>T (MYO19)
ENST00000619326.1:c.281T>A (PIGW)	ENSP00000480475.1:p.Leu94Ter
ENST00000620233.1:c.281T>A (PIGW)	ENSP00000480021.1:p.Leu94Ter
NM_178517.3:c.281T>A (PIGW)	NP_848612.2:p.Leu94Ter
XM_005257238.1:c.281T>A (PIGW)	XP_005257295.1:p.Leu94Ter
XM_011524646.1:c.281T>A (PIGW)	XP_011522948.1:p.Leu94Ter
NM_001346754.1:c.281T>A (PIGW)	NP_001333683.1:p.Leu94Ter
NM_001346755.1:c.281T>A (PIGW)	NP_001333684.1:p.Leu94Ter
NM_178517.4:c.281T>A (PIGW)	NP_848612.2:p.Leu94Ter
NM_001346754.2:c.281T>A (PIGW) MANE Select	NP_001333683.1:p.Leu94Ter
NM_001346755.2:c.281T>A (PIGW)	NP_001333684.1:p.Leu94Ter
NM_178517.5:c.281T>A (PIGW)	NP_848612.2:p.Leu94Ter