Canonical Allele Identifier: CA9737216

Gene: VPS16 PCED1A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2840754C>T , CM000682.2:g.2840754C>T	GRCh38
NC_000020.10:g.2821400C>T , CM000682.1:g.2821400C>T	GRCh37
NC_000020.9:g.2769400C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022575.4:c.-21C>T (VPS16) MANE Select	NP_072097.2:n.-21C>T
ENST00000380445.8:c.-21C>T (VPS16) MANE Select	ENSP00000369810.3:n.-21C>T
NM_001271168.1:c.-22+112G>A (PCED1A)	NP_001258097.1:n.-22+112G>A
NM_001271168.2:c.-22+112G>A (PCED1A)	NP_001258097.1:n.-22+112G>A
NM_022575.3:c.-21C>T (VPS16)	NP_072097.2:n.-21C>T
NM_080413.2:c.-21C>T (VPS16)	NP_536338.1:n.-21C>T
NM_080413.3:c.-21C>T (VPS16)	NP_536338.1:n.-21C>T
ENST00000356872.7:c.-22+112G>A (PCED1A)	ENSP00000349334.3:n.-22+112G>A
ENST00000380445.7:c.-21C>T (VPS16)	ENSP00000369810.3:n.-21C>T
ENST00000380469.7:c.-21C>T (VPS16)	ENSP00000369836.3:n.-21C>T
ENST00000439542.1:c.-22+112G>A (PCED1A)	ENSP00000401711.1:n.-22+112G>A
XM_005260804.2:c.-22+112G>A (PCED1A)	XP_005260861.1:n.-22+112G>A