Canonical Allele Identifier: CA639158606

Gene: PVALB

Linked Data

• dbSNP Id: rs1418112955
• gnomAD v2: 22-37199508-C-G
• gnomAD v3: 22-36803464-C-G
• gnomAD v4: 22-36803464-C-G
• MyVariant Identifiers: chr22:g.37199508C>G (hg19) ; chr22:g.36803464C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803464C>G , CM000684.2:g.36803464C>G	GRCh38
NC_000022.10:g.37199508C>G , CM000684.1:g.37199508C>G	GRCh37
NC_000022.9:g.35529454C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2546G>C MANE Select	ENSP00000400247.2:n.305-2546G>C
ENST00000216200.9:c.305-2546G>C	ENSP00000216200.5:n.305-2546G>C
ENST00000404171.1:c.209-2546G>C	ENSP00000386089.1:n.209-2546G>C
ENST00000406910.6:c.351-2546G>C
ENST00000417718.6:c.305-2546G>C	ENSP00000400247.2:n.305-2546G>C
NM_001315532.1:c.305-2546G>C	NP_001302461.1:n.305-2546G>C
NM_002854.2:c.305-2546G>C	NP_002845.1:n.305-2546G>C
NM_001315532.2:c.305-2546G>C MANE Select	NP_001302461.1:n.305-2546G>C
NM_002854.3:c.305-2546G>C	NP_002845.1:n.305-2546G>C