Canonical Allele Identifier: CA380329507

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47463240T>A (hg19) ; chr11:g.47441688T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441688T>A , CM000673.2:g.47441688T>A	GRCh38
NC_000011.9:g.47463240T>A , CM000673.1:g.47463240T>A	GRCh37
NC_000011.8:g.47419816T>A	NCBI36
NG_008312.1:g.12491A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.835A>T MANE Select	ENSP00000298854.2:p.Ile279Phe
ENST00000298854.6:c.835A>T	ENSP00000298854.2:p.Ile279Phe
ENST00000352508.7:c.789+135A>T	ENSP00000298853.3:n.789+135A>T
ENST00000524487.5:c.676A>T	ENSP00000435551.2:p.Ile226Phe
ENST00000528356.1:n.44A>T
ENST00000529341.1:c.789+135A>T	ENSP00000431732.1:n.789+135A>T
NM_005055.4:c.835A>T	NP_005046.2:p.Ile279Phe
NM_032645.4:c.789+135A>T	NP_116034.2:n.789+135A>T
XM_005253042.2:c.835A>T	XP_005253099.1:p.Ile279Phe
XM_005253043.2:c.789+135A>T	XP_005253100.1:n.789+135A>T
XM_011520252.1:c.835A>T	XP_011518554.1:p.Ile279Phe
XM_011520253.1:c.835A>T	XP_011518555.1:p.Ile279Phe
XM_005253042.3:c.835A>T	XP_005253099.1:p.Ile279Phe
XM_005253043.3:c.789+135A>T	XP_005253100.1:n.789+135A>T
NM_005055.5:c.835A>T MANE Select	NP_005046.2:p.Ile279Phe
NM_032645.5:c.789+135A>T	NP_116034.2:n.789+135A>T