Canonical Allele Identifier: CA323990001

Gene: PVALB

Linked Data

• dbSNP Id: rs528566255
• gnomAD v2: 22-37199602-G-T
• gnomAD v3: 22-36803558-G-T
• gnomAD v4: 22-36803558-G-T
• MyVariant Identifiers: chr22:g.37199602G>T (hg19) ; chr22:g.36803558G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803558G>T , CM000684.2:g.36803558G>T	GRCh38
NC_000022.10:g.37199602G>T , CM000684.1:g.37199602G>T	GRCh37
NC_000022.9:g.35529548G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2640C>A MANE Select	ENSP00000400247.2:n.305-2640C>A
ENST00000216200.9:c.305-2640C>A	ENSP00000216200.5:n.305-2640C>A
ENST00000404171.1:c.209-2640C>A	ENSP00000386089.1:n.209-2640C>A
ENST00000406910.6:c.351-2640C>A
ENST00000417718.6:c.305-2640C>A	ENSP00000400247.2:n.305-2640C>A
NM_001315532.1:c.305-2640C>A	NP_001302461.1:n.305-2640C>A
NM_002854.2:c.305-2640C>A	NP_002845.1:n.305-2640C>A
NM_001315532.2:c.305-2640C>A MANE Select	NP_001302461.1:n.305-2640C>A
NM_002854.3:c.305-2640C>A	NP_002845.1:n.305-2640C>A