Canonical Allele Identifier: CA380325396

Gene: RAPSN

Linked Data

• dbSNP Id: rs1245755651
• gnomAD v2: 11-47459541-C-A
• gnomAD v4: 11-47437990-C-A
• MyVariant Identifiers: chr11:g.47459541C>A (hg19) ; chr11:g.47437990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437990C>A , CM000673.2:g.47437990C>A	GRCh38
NC_000011.9:g.47459541C>A , CM000673.1:g.47459541C>A	GRCh37
NC_000011.8:g.47416117C>A	NCBI36
NG_008312.1:g.16190G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1224G>T MANE Select	ENSP00000298854.2:p.Lys408Asn
ENST00000298854.6:c.1224G>T	ENSP00000298854.2:p.Lys408Asn
ENST00000352508.7:c.1047G>T	ENSP00000298853.3:p.Lys349Asn
ENST00000524487.5:c.1065G>T	ENSP00000435551.2:p.Lys355Asn
ENST00000528356.1:n.179G>T
NM_005055.4:c.1224G>T	NP_005046.2:p.Lys408Asn
NM_032645.4:c.1047G>T	NP_116034.2:p.Lys349Asn
XM_005253042.2:c.1170G>T	XP_005253099.1:p.Lys390Asn
XM_005253043.2:c.1101G>T	XP_005253100.1:p.Lys367Asn
XM_011520252.1:c.1309G>T	XP_011518554.1:p.Ala437Ser
XM_011520253.1:c.1248G>T	XP_011518555.1:p.Lys416Asn
XM_005253042.3:c.1170G>T	XP_005253099.1:p.Lys390Asn
XM_005253043.3:c.1101G>T	XP_005253100.1:p.Lys367Asn
NM_005055.5:c.1224G>T MANE Select	NP_005046.2:p.Lys408Asn
NM_032645.5:c.1047G>T	NP_116034.2:p.Lys349Asn