Canonical Allele Identifier: CA599072980

Gene: RAPSN

Linked Data

• dbSNP Id: rs1199759485
• gnomAD v2: 11-47459399-G-A
• gnomAD v4: 11-47437848-G-A
• MyVariant Identifiers: chr11:g.47459399G>A (hg19) ; chr11:g.47437848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437848G>A , CM000673.2:g.47437848G>A	GRCh38
NC_000011.9:g.47459399G>A , CM000673.1:g.47459399G>A	GRCh37
NC_000011.8:g.47415975G>A	NCBI36
NG_008312.1:g.16332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*127C>T MANE Select	ENSP00000298854.2:n.*127C>T
ENST00000298854.6:c.*127C>T	ENSP00000298854.2:n.*127C>T
ENST00000352508.7:c.*127C>T	ENSP00000298853.3:n.*127C>T
ENST00000524487.5:c.*127C>T	ENSP00000435551.2:n.*127C>T
ENST00000528356.1:n.321C>T
NM_005055.4:c.*127C>T	NP_005046.2:n.*127C>T
NM_032645.4:c.*127C>T	NP_116034.2:n.*127C>T
XM_011520252.1:c.1451C>T	XP_011518554.1:p.Ala484Val
NM_005055.5:c.*127C>T MANE Select	NP_005046.2:n.*127C>T
NM_032645.5:c.*127C>T	NP_116034.2:n.*127C>T