Canonical Allele Identifier: CA474217177

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459538A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437987A>G , CM000673.2:g.47437987A>G	GRCh38
NC_000011.9:g.47459538A>G , CM000673.1:g.47459538A>G	GRCh37
NC_000011.8:g.47416114A>G	NCBI36
NG_008312.1:g.16193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1227T>C MANE Select	ENSP00000298854.2:p.Pro409=
ENST00000298854.6:c.1227T>C	ENSP00000298854.2:p.Pro409=
ENST00000352508.7:c.1050T>C	ENSP00000298853.3:p.Pro350=
ENST00000524487.5:c.1068T>C	ENSP00000435551.2:p.Pro356=
ENST00000528356.1:n.182T>C
NM_005055.4:c.1227T>C	NP_005046.2:p.Pro409=
NM_032645.4:c.1050T>C	NP_116034.2:p.Pro350=
XM_005253042.2:c.1173T>C	XP_005253099.1:p.Pro391=
XM_005253043.2:c.1104T>C	XP_005253100.1:p.Pro368=
XM_011520252.1:c.1312T>C	XP_011518554.1:p.Trp438Arg
XM_011520253.1:c.1251T>C	XP_011518555.1:p.Pro417=
XM_005253042.3:c.1173T>C	XP_005253099.1:p.Pro391=
XM_005253043.3:c.1104T>C	XP_005253100.1:p.Pro368=
NM_005055.5:c.1227T>C MANE Select	NP_005046.2:p.Pro409=
NM_032645.5:c.1050T>C	NP_116034.2:p.Pro350=