Canonical Allele Identifier: CA323997733
Gene: PVALB HGNC NCBI

Linked Data

dbSNP Id: rs866562125
gnomAD v3: 22-36813589-C-T
gnomAD v4: 22-36813589-C-T
COSMIC: COSN26441262
MyVariant Identifiers: chr22:g.37209633C>T (hg19) chr22:g.36813589C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36813589C>T , CM000684.2:g.36813589C>T GRCh38
NC_000022.10:g.37209633C>T , CM000684.1:g.37209633C>T GRCh37
NC_000022.9:g.35539579C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.304+57G>A MANE Select ENSP00000400247.2:n.304+57G>A
ENST00000216200.9:c.304+57G>A ENSP00000216200.5:n.304+57G>A
ENST00000404171.1:c.208+57G>A ENSP00000386089.1:n.208+57G>A
ENST00000406910.6:c.300+57G>A
ENST00000417718.6:c.304+57G>A ENSP00000400247.2:n.304+57G>A
ENST00000467935.1:n.391G>A
NM_001315532.1:c.304+57G>A NP_001302461.1:n.304+57G>A
NM_002854.2:c.304+57G>A NP_002845.1:n.304+57G>A
XM_011530288.1:c.304+57G>A XP_011528590.1:n.304+57G>A
NM_001315532.2:c.304+57G>A MANE Select NP_001302461.1:n.304+57G>A
NM_002854.3:c.304+57G>A NP_002845.1:n.304+57G>A
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