Canonical Allele Identifier: CA380325476

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459552A>C (hg19) ; chr11:g.47438001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438001A>C , CM000673.2:g.47438001A>C	GRCh38
NC_000011.9:g.47459552A>C , CM000673.1:g.47459552A>C	GRCh37
NC_000011.8:g.47416128A>C	NCBI36
NG_008312.1:g.16179T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1213T>G MANE Select	ENSP00000298854.2:p.Ser405Ala
ENST00000298854.6:c.1213T>G	ENSP00000298854.2:p.Ser405Ala
ENST00000352508.7:c.1036T>G	ENSP00000298853.3:p.Ser346Ala
ENST00000524487.5:c.1054T>G	ENSP00000435551.2:p.Ser352Ala
ENST00000528356.1:n.168T>G
NM_005055.4:c.1213T>G	NP_005046.2:p.Ser405Ala
NM_032645.4:c.1036T>G	NP_116034.2:p.Ser346Ala
XM_005253042.2:c.1159T>G	XP_005253099.1:p.Ser387Ala
XM_005253043.2:c.1090T>G	XP_005253100.1:p.Ser364Ala
XM_011520252.1:c.1298T>G	XP_011518554.1:p.Leu433Arg
XM_011520253.1:c.1237T>G	XP_011518555.1:p.Ser413Ala
XM_005253042.3:c.1159T>G	XP_005253099.1:p.Ser387Ala
XM_005253043.3:c.1090T>G	XP_005253100.1:p.Ser364Ala
NM_005055.5:c.1213T>G MANE Select	NP_005046.2:p.Ser405Ala
NM_032645.5:c.1036T>G	NP_116034.2:p.Ser346Ala