Canonical Allele Identifier: CA7881465

Gene: ZNF500

Linked Data

• dbSNP Id: rs779761775
• ExAC: 16:4812606 G / A
• gnomAD v2: 16-4812606-G-A
• gnomAD v4: 16-4762605-G-A
• MyVariant Identifiers: chr16:g.4812606G>A (hg19) ; chr16:g.4762605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762605G>A , CM000678.2:g.4762605G>A	GRCh38
NC_000016.9:g.4812606G>A , CM000678.1:g.4812606G>A	GRCh37
NC_000016.8:g.4752607G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000219478.11:c.566C>T MANE Select	ENSP00000219478.5:p.Pro189Leu
ENST00000219478.10:c.566C>T	ENSP00000219478.5:p.Pro189Leu
ENST00000545009.1:c.566C>T	ENSP00000445714.1:p.Pro189Leu
ENST00000589422.1:c.*94C>T	ENSP00000466375.1:n.*94C>T
NM_001303450.1:c.566C>T	NP_001290379.1:p.Pro189Leu
NM_021646.2:c.566C>T	NP_067678.1:p.Pro189Leu
XM_005255243.2:c.215C>T	XP_005255300.1:p.Pro72Leu
XM_011522453.1:c.566C>T	XP_011520755.1:p.Pro189Leu
XM_011522454.1:c.-59C>T	XP_011520756.1:n.-59C>T
NM_021646.3:c.566C>T	NP_067678.1:p.Pro189Leu
XM_005255243.4:c.215C>T	XP_005255300.1:p.Pro72Leu
XM_011522453.2:c.566C>T	XP_011520755.1:p.Pro189Leu
XM_011522454.3:c.-59C>T	XP_011520756.1:n.-59C>T
XM_017023121.2:c.-59C>T	XP_016878610.1:n.-59C>T
NM_001303450.2:c.566C>T	NP_001290379.1:p.Pro189Leu
NM_021646.4:c.566C>T MANE Select	NP_067678.1:p.Pro189Leu