Canonical Allele Identifier: CA752877928

Gene: PVALB

Linked Data

• dbSNP Id: rs1480141944
• gnomAD v3: 22-36813544-C-T
• gnomAD v4: 22-36813544-C-T
• MyVariant Identifiers: chr22:g.37209588C>T (hg19) ; chr22:g.36813544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813544C>T , CM000684.2:g.36813544C>T	GRCh38
NC_000022.10:g.37209588C>T , CM000684.1:g.37209588C>T	GRCh37
NC_000022.9:g.35539534C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+102G>A MANE Select	ENSP00000400247.2:n.304+102G>A
ENST00000216200.9:c.304+102G>A	ENSP00000216200.5:n.304+102G>A
ENST00000404171.1:c.208+102G>A	ENSP00000386089.1:n.208+102G>A
ENST00000406910.6:c.300+102G>A
ENST00000417718.6:c.304+102G>A	ENSP00000400247.2:n.304+102G>A
ENST00000467935.1:n.436G>A
NM_001315532.1:c.304+102G>A	NP_001302461.1:n.304+102G>A
NM_002854.2:c.304+102G>A	NP_002845.1:n.304+102G>A
XM_011530288.1:c.304+102G>A	XP_011528590.1:n.304+102G>A
NM_001315532.2:c.304+102G>A MANE Select	NP_001302461.1:n.304+102G>A
NM_002854.3:c.304+102G>A	NP_002845.1:n.304+102G>A