Canonical Allele Identifier: CA380325583

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459567G>C (hg19) ; chr11:g.47438016G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438016G>C , CM000673.2:g.47438016G>C	GRCh38
NC_000011.9:g.47459567G>C , CM000673.1:g.47459567G>C	GRCh37
NC_000011.8:g.47416143G>C	NCBI36
NG_008312.1:g.16164C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1198C>G MANE Select	ENSP00000298854.2:p.Pro400Ala
ENST00000298854.6:c.1198C>G	ENSP00000298854.2:p.Pro400Ala
ENST00000352508.7:c.1021C>G	ENSP00000298853.3:p.Pro341Ala
ENST00000524487.5:c.1039C>G	ENSP00000435551.2:p.Pro347Ala
ENST00000528356.1:n.153C>G
NM_005055.4:c.1198C>G	NP_005046.2:p.Pro400Ala
NM_032645.4:c.1021C>G	NP_116034.2:p.Pro341Ala
XM_005253042.2:c.1144C>G	XP_005253099.1:p.Pro382Ala
XM_005253043.2:c.1075C>G	XP_005253100.1:p.Pro359Ala
XM_011520252.1:c.1283C>G	XP_011518554.1:p.Ser428Cys
XM_011520253.1:c.1222C>G	XP_011518555.1:p.Pro408Ala
XM_005253042.3:c.1144C>G	XP_005253099.1:p.Pro382Ala
XM_005253043.3:c.1075C>G	XP_005253100.1:p.Pro359Ala
NM_005055.5:c.1198C>G MANE Select	NP_005046.2:p.Pro400Ala
NM_032645.5:c.1021C>G	NP_116034.2:p.Pro341Ala