Canonical Allele Identifier: CA7323122

Gene: PRIMA1

Linked Data

• ClinVar Variation Id: 542928
• ClinVar RCV Id: RCV003227820
• dbSNP Id: rs186707302
• ExAC: 14:94254049 A / C
• gnomAD v2: 14-94254049-A-C
• gnomAD v3: 14-93787703-A-C
• gnomAD v4: 14-93787703-A-C
• MyVariant Identifiers: chr14:g.94254049A>C (hg19) ; chr14:g.93787703A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93787703A>C , CM000676.2:g.93787703A>C	GRCh38
NC_000014.8:g.94254049A>C , CM000676.1:g.94254049A>C	GRCh37
NC_000014.7:g.93323802A>C	NCBI36
NG_009069.1:g.5718T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393140.6:c.16T>G MANE Select	ENSP00000376848.1:p.Leu6Val
ENST00000316227.3:c.16T>G	ENSP00000320948.3:p.Leu6Val
ENST00000393140.5:c.16T>G	ENSP00000376848.1:p.Leu6Val
ENST00000393143.5:c.16T>G	ENSP00000376851.1:p.Leu6Val
ENST00000477603.5:c.16T>G	ENSP00000434370.1:p.Leu6Val
NM_178013.3:c.16T>G	NP_821092.1:p.Leu6Val
XM_011536456.1:c.16T>G	XP_011534758.1:p.Leu6Val
XM_011536456.2:c.16T>G	XP_011534758.1:p.Leu6Val
XM_024449482.1:c.16T>G	XP_024305250.1:p.Leu6Val
XR_002957532.1:n.124T>G
XR_002957533.1:n.124T>G
NM_178013.4:c.16T>G MANE Select	NP_821092.1:p.Leu6Val