Canonical Allele Identifier: CA380325375

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459536C>G (hg19) ; chr11:g.47437985C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437985C>G , CM000673.2:g.47437985C>G	GRCh38
NC_000011.9:g.47459536C>G , CM000673.1:g.47459536C>G	GRCh37
NC_000011.8:g.47416112C>G	NCBI36
NG_008312.1:g.16195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1229G>C MANE Select	ENSP00000298854.2:p.Gly410Ala
ENST00000298854.6:c.1229G>C	ENSP00000298854.2:p.Gly410Ala
ENST00000352508.7:c.1052G>C	ENSP00000298853.3:p.Gly351Ala
ENST00000524487.5:c.1070G>C	ENSP00000435551.2:p.Gly357Ala
ENST00000528356.1:n.184G>C
NM_005055.4:c.1229G>C	NP_005046.2:p.Gly410Ala
NM_032645.4:c.1052G>C	NP_116034.2:p.Gly351Ala
XM_005253042.2:c.1175G>C	XP_005253099.1:p.Gly392Ala
XM_005253043.2:c.1106G>C	XP_005253100.1:p.Gly369Ala
XM_011520252.1:c.1314G>C	XP_011518554.1:p.Trp438Cys
XM_011520253.1:c.1253G>C	XP_011518555.1:p.Gly418Ala
XM_005253042.3:c.1175G>C	XP_005253099.1:p.Gly392Ala
XM_005253043.3:c.1106G>C	XP_005253100.1:p.Gly369Ala
NM_005055.5:c.1229G>C MANE Select	NP_005046.2:p.Gly410Ala
NM_032645.5:c.1052G>C	NP_116034.2:p.Gly351Ala