Canonical Allele Identifier: CA607993

Gene: PRAMEF2 HNRNPCL1

Linked Data

• ClinVar Variation Id: 3025685
• ClinVar RCV Id: RCV003885073
• dbSNP Id: rs201917301
• ExAC: 1:12919615 G / T
• gnomAD v2: 1-12919615-G-T
• gnomAD v3: 1-12859760-G-T
• gnomAD v4: 1-12859760-G-T
• MyVariant Identifiers: chr1:g.12919615G>T (hg19) ; chr1:g.12859760G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12859760G>T , CM000663.2:g.12859760G>T	GRCh38
NC_000001.10:g.12919615G>T , CM000663.1:g.12919615G>T	GRCh37
NC_000001.9:g.12842202G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240189.2:c.355G>T (PRAMEF2) MANE Select	ENSP00000240189.2:p.Ala119Ser
ENST00000617044.1:c.-181-11290C>A (HNRNPCL1)	ENSP00000479365.1:n.-181-11290C>A
NM_023014.1:c.355G>T (PRAMEF2) MANE Select	NP_075390.1:p.Ala119Ser