Canonical Allele Identifier: CA607989

Gene: PRAMEF2 HNRNPCL1

Linked Data

• ClinVar Variation Id: 3025679
• ClinVar RCV Id: RCV003885067
• dbSNP Id: rs545743529
• ExAC: 1:12919609 C / T
• gnomAD v2: 1-12919609-C-T
• gnomAD v3: 1-12859754-C-T
• gnomAD v4: 1-12859754-C-T
• MyVariant Identifiers: chr1:g.12919609C>T (hg19) ; chr1:g.12859754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12859754C>T , CM000663.2:g.12859754C>T	GRCh38
NC_000001.10:g.12919609C>T , CM000663.1:g.12919609C>T	GRCh37
NC_000001.9:g.12842196C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240189.2:c.349C>T (PRAMEF2) MANE Select	ENSP00000240189.2:p.Pro117Ser
ENST00000617044.1:c.-181-11284G>A (HNRNPCL1)	ENSP00000479365.1:n.-181-11284G>A
NM_023014.1:c.349C>T (PRAMEF2) MANE Select	NP_075390.1:p.Pro117Ser