Canonical Allele Identifier: CA380325350

Gene: RAPSN

Linked Data

• COSMIC: COSM3666339
• MyVariant Identifiers: chr11:g.47459531C>A (hg19) ; chr11:g.47437980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437980C>A , CM000673.2:g.47437980C>A	GRCh38
NC_000011.9:g.47459531C>A , CM000673.1:g.47459531C>A	GRCh37
NC_000011.8:g.47416107C>A	NCBI36
NG_008312.1:g.16200G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1234G>T MANE Select	ENSP00000298854.2:p.Val412Leu
ENST00000298854.6:c.1234G>T	ENSP00000298854.2:p.Val412Leu
ENST00000352508.7:c.1057G>T	ENSP00000298853.3:p.Val353Leu
ENST00000524487.5:c.1075G>T	ENSP00000435551.2:p.Val359Leu
ENST00000528356.1:n.189G>T
NM_005055.4:c.1234G>T	NP_005046.2:p.Val412Leu
NM_032645.4:c.1057G>T	NP_116034.2:p.Val353Leu
XM_005253042.2:c.1180G>T	XP_005253099.1:p.Val394Leu
XM_005253043.2:c.1111G>T	XP_005253100.1:p.Val371Leu
XM_011520252.1:c.1319G>T	XP_011518554.1:p.Cys440Phe
XM_011520253.1:c.1258G>T	XP_011518555.1:p.Val420Leu
XM_005253042.3:c.1180G>T	XP_005253099.1:p.Val394Leu
XM_005253043.3:c.1111G>T	XP_005253100.1:p.Val371Leu
NM_005055.5:c.1234G>T MANE Select	NP_005046.2:p.Val412Leu
NM_032645.5:c.1057G>T	NP_116034.2:p.Val353Leu