Canonical Allele Identifier: CA639160227

Gene: PVALB

Linked Data

• dbSNP Id: rs1395946612
• gnomAD v2: 22-37209658-A-G
• gnomAD v4: 22-36813614-A-G
• MyVariant Identifiers: chr22:g.37209658A>G (hg19) ; chr22:g.36813614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813614A>G , CM000684.2:g.36813614A>G	GRCh38
NC_000022.10:g.37209658A>G , CM000684.1:g.37209658A>G	GRCh37
NC_000022.9:g.35539604A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+32T>C MANE Select	ENSP00000400247.2:n.304+32T>C
ENST00000216200.9:c.304+32T>C	ENSP00000216200.5:n.304+32T>C
ENST00000404171.1:c.208+32T>C	ENSP00000386089.1:n.208+32T>C
ENST00000406910.6:c.300+32T>C
ENST00000417718.6:c.304+32T>C	ENSP00000400247.2:n.304+32T>C
ENST00000467935.1:n.366T>C
NM_001315532.1:c.304+32T>C	NP_001302461.1:n.304+32T>C
NM_002854.2:c.304+32T>C	NP_002845.1:n.304+32T>C
XM_011530288.1:c.304+32T>C	XP_011528590.1:n.304+32T>C
NM_001315532.2:c.304+32T>C MANE Select	NP_001302461.1:n.304+32T>C
NM_002854.3:c.304+32T>C	NP_002845.1:n.304+32T>C