Canonical Allele Identifier: CA229328319

Gene: ZPR1

Linked Data

• dbSNP Id: rs560442486
• gnomAD v2: 11-116652153-T-G
• gnomAD v3: 11-116781437-T-G
• gnomAD v4: 11-116781437-T-G
• MyVariant Identifiers: chr11:g.116652153T>G (hg19) ; chr11:g.116781437T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116781437T>G , CM000673.2:g.116781437T>G	GRCh38
NC_000011.9:g.116652153T>G , CM000673.1:g.116652153T>G	GRCh37
NC_000011.8:g.116157363T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227322.8:c.1179+721A>C MANE Select	ENSP00000227322.3:n.1179+721A>C
ENST00000227322.7:c.1179+721A>C	ENSP00000227322.3:n.1179+721A>C
ENST00000429220.5:c.958+721A>C
ENST00000444935.5:c.1091+1482A>C
NM_003904.3:c.1179+721A>C	NP_003895.1:n.1179+721A>C
NM_001317086.1:c.1017+721A>C	NP_001304015.1:n.1017+721A>C
NM_003904.4:c.1179+721A>C	NP_003895.1:n.1179+721A>C
XR_001748023.2:n.2507+721A>C
NM_003904.5:c.1179+721A>C MANE Select	NP_003895.1:n.1179+721A>C
NM_001317086.2:c.1017+721A>C	NP_001304015.1:n.1017+721A>C