Canonical Allele Identifier: CA380325571

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459564T>A (hg19) ; chr11:g.47438013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438013T>A , CM000673.2:g.47438013T>A	GRCh38
NC_000011.9:g.47459564T>A , CM000673.1:g.47459564T>A	GRCh37
NC_000011.8:g.47416140T>A	NCBI36
NG_008312.1:g.16167A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1201A>T MANE Select	ENSP00000298854.2:p.Asn401Tyr
ENST00000298854.6:c.1201A>T	ENSP00000298854.2:p.Asn401Tyr
ENST00000352508.7:c.1024A>T	ENSP00000298853.3:p.Asn342Tyr
ENST00000524487.5:c.1042A>T	ENSP00000435551.2:p.Asn348Tyr
ENST00000528356.1:n.156A>T
NM_005055.4:c.1201A>T	NP_005046.2:p.Asn401Tyr
NM_032645.4:c.1024A>T	NP_116034.2:p.Asn342Tyr
XM_005253042.2:c.1147A>T	XP_005253099.1:p.Asn383Tyr
XM_005253043.2:c.1078A>T	XP_005253100.1:p.Asn360Tyr
XM_011520252.1:c.1286A>T	XP_011518554.1:p.Gln429Leu
XM_011520253.1:c.1225A>T	XP_011518555.1:p.Asn409Tyr
XM_005253042.3:c.1147A>T	XP_005253099.1:p.Asn383Tyr
XM_005253043.3:c.1078A>T	XP_005253100.1:p.Asn360Tyr
NM_005055.5:c.1201A>T MANE Select	NP_005046.2:p.Asn401Tyr
NM_032645.5:c.1024A>T	NP_116034.2:p.Asn342Tyr