Canonical Allele Identifier: CA380325478

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47438001-A-G
• MyVariant Identifiers: chr11:g.47459552A>G (hg19) ; chr11:g.47438001A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438001A>G , CM000673.2:g.47438001A>G	GRCh38
NC_000011.9:g.47459552A>G , CM000673.1:g.47459552A>G	GRCh37
NC_000011.8:g.47416128A>G	NCBI36
NG_008312.1:g.16179T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1213T>C MANE Select	ENSP00000298854.2:p.Ser405Pro
ENST00000298854.6:c.1213T>C	ENSP00000298854.2:p.Ser405Pro
ENST00000352508.7:c.1036T>C	ENSP00000298853.3:p.Ser346Pro
ENST00000524487.5:c.1054T>C	ENSP00000435551.2:p.Ser352Pro
ENST00000528356.1:n.168T>C
NM_005055.4:c.1213T>C	NP_005046.2:p.Ser405Pro
NM_032645.4:c.1036T>C	NP_116034.2:p.Ser346Pro
XM_005253042.2:c.1159T>C	XP_005253099.1:p.Ser387Pro
XM_005253043.2:c.1090T>C	XP_005253100.1:p.Ser364Pro
XM_011520252.1:c.1298T>C	XP_011518554.1:p.Leu433Pro
XM_011520253.1:c.1237T>C	XP_011518555.1:p.Ser413Pro
XM_005253042.3:c.1159T>C	XP_005253099.1:p.Ser387Pro
XM_005253043.3:c.1090T>C	XP_005253100.1:p.Ser364Pro
NM_005055.5:c.1213T>C MANE Select	NP_005046.2:p.Ser405Pro
NM_032645.5:c.1036T>C	NP_116034.2:p.Ser346Pro