Canonical Allele Identifier: CA380329330

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47463227A>T (hg19) ; chr11:g.47441675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441675A>T , CM000673.2:g.47441675A>T	GRCh38
NC_000011.9:g.47463227A>T , CM000673.1:g.47463227A>T	GRCh37
NC_000011.8:g.47419803A>T	NCBI36
NG_008312.1:g.12504T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.848T>A MANE Select	ENSP00000298854.2:p.Leu283Gln
ENST00000298854.6:c.848T>A	ENSP00000298854.2:p.Leu283Gln
ENST00000352508.7:c.789+148T>A	ENSP00000298853.3:n.789+148T>A
ENST00000524487.5:c.689T>A	ENSP00000435551.2:p.Leu230Gln
ENST00000528356.1:n.57T>A
ENST00000529341.1:c.789+148T>A	ENSP00000431732.1:n.789+148T>A
NM_005055.4:c.848T>A	NP_005046.2:p.Leu283Gln
NM_032645.4:c.789+148T>A	NP_116034.2:n.789+148T>A
XM_005253042.2:c.848T>A	XP_005253099.1:p.Leu283Gln
XM_005253043.2:c.789+148T>A	XP_005253100.1:n.789+148T>A
XM_011520252.1:c.848T>A	XP_011518554.1:p.Leu283Gln
XM_011520253.1:c.848T>A	XP_011518555.1:p.Leu283Gln
XM_005253042.3:c.848T>A	XP_005253099.1:p.Leu283Gln
XM_005253043.3:c.789+148T>A	XP_005253100.1:n.789+148T>A
NM_005055.5:c.848T>A MANE Select	NP_005046.2:p.Leu283Gln
NM_032645.5:c.789+148T>A	NP_116034.2:n.789+148T>A