Canonical Allele Identifier: CA323997728

Gene: PVALB

Linked Data

• dbSNP Id: rs777430343
• gnomAD v2: 22-37209624-C-G
• gnomAD v3: 22-36813580-C-G
• gnomAD v4: 22-36813580-C-G
• MyVariant Identifiers: chr22:g.37209624C>G (hg19) ; chr22:g.36813580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813580C>G , CM000684.2:g.36813580C>G	GRCh38
NC_000022.10:g.37209624C>G , CM000684.1:g.37209624C>G	GRCh37
NC_000022.9:g.35539570C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+66G>C MANE Select	ENSP00000400247.2:n.304+66G>C
ENST00000216200.9:c.304+66G>C	ENSP00000216200.5:n.304+66G>C
ENST00000404171.1:c.208+66G>C	ENSP00000386089.1:n.208+66G>C
ENST00000406910.6:c.300+66G>C
ENST00000417718.6:c.304+66G>C	ENSP00000400247.2:n.304+66G>C
ENST00000467935.1:n.400G>C
NM_001315532.1:c.304+66G>C	NP_001302461.1:n.304+66G>C
NM_002854.2:c.304+66G>C	NP_002845.1:n.304+66G>C
XM_011530288.1:c.304+66G>C	XP_011528590.1:n.304+66G>C
NM_001315532.2:c.304+66G>C MANE Select	NP_001302461.1:n.304+66G>C
NM_002854.3:c.304+66G>C	NP_002845.1:n.304+66G>C