Canonical Allele Identifier: CA2404045872

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813449G= , CM000684.2:g.36813449G=	GRCh38
NC_000022.10:g.37209493G= , CM000684.1:g.37209493G=	GRCh37
NC_000022.9:g.35539439G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+197C= MANE Select	ENSP00000400247.2:n.304+197C=
ENST00000216200.9:c.304+197C=	ENSP00000216200.5:n.304+197C=
ENST00000404171.1:c.208+197C=	ENSP00000386089.1:n.208+197C=
ENST00000406910.6:c.300+197C=
ENST00000417718.6:c.304+197C=	ENSP00000400247.2:n.304+197C=
NM_001315532.1:c.304+197C=	NP_001302461.1:n.304+197C=
NM_002854.2:c.304+197C=	NP_002845.1:n.304+197C=
XM_011530288.1:c.304+197C=	XP_011528590.1:n.304+197C=
NM_001315532.2:c.304+197C= MANE Select	NP_001302461.1:n.304+197C=
NM_002854.3:c.304+197C=	NP_002845.1:n.304+197C=