Canonical Allele Identifier: CA380330157

Gene: RAPSN

Linked Data

• dbSNP Id: rs2076367489
• gnomAD v3: 11-47441864-G-A
• gnomAD v4: 11-47441864-G-A
• MyVariant Identifiers: chr11:g.47463416G>A (hg19) ; chr11:g.47441864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441864G>A , CM000673.2:g.47441864G>A	GRCh38
NC_000011.9:g.47463416G>A , CM000673.1:g.47463416G>A	GRCh37
NC_000011.8:g.47419992G>A	NCBI36
NG_008312.1:g.12315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.748C>T MANE Select	ENSP00000298854.2:p.Leu250Phe
ENST00000298854.6:c.748C>T	ENSP00000298854.2:p.Leu250Phe
ENST00000352508.7:c.748C>T	ENSP00000298853.3:p.Leu250Phe
ENST00000524487.5:c.589C>T	ENSP00000435551.2:p.Leu197Phe
ENST00000529341.1:c.748C>T	ENSP00000431732.1:p.Leu250Phe
NM_005055.4:c.748C>T	NP_005046.2:p.Leu250Phe
NM_032645.4:c.748C>T	NP_116034.2:p.Leu250Phe
XM_005253042.2:c.748C>T	XP_005253099.1:p.Leu250Phe
XM_005253043.2:c.748C>T	XP_005253100.1:p.Leu250Phe
XM_011520252.1:c.748C>T	XP_011518554.1:p.Leu250Phe
XM_011520253.1:c.748C>T	XP_011518555.1:p.Leu250Phe
XM_005253042.3:c.748C>T	XP_005253099.1:p.Leu250Phe
XM_005253043.3:c.748C>T	XP_005253100.1:p.Leu250Phe
NM_005055.5:c.748C>T MANE Select	NP_005046.2:p.Leu250Phe
NM_032645.5:c.748C>T	NP_116034.2:p.Leu250Phe