Canonical Allele Identifier: CA474430439

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438734G>A , CM000673.2:g.47438734G>A	GRCh38
NC_000011.9:g.47460285G>A , CM000673.1:g.47460285G>A	GRCh37
NC_000011.8:g.47416861G>A	NCBI36
NG_008312.1:g.15446C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.1164C>T MANE Select	NP_005046.2:p.Leu388=
ENST00000298854.7:c.1164C>T MANE Select	ENSP00000298854.2:p.Leu388=
NM_005055.4:c.1164C>T	NP_005046.2:p.Leu388=
NM_032645.4:c.987C>T	NP_116034.2:p.Leu329=
NM_032645.5:c.987C>T	NP_116034.2:p.Leu329=
ENST00000298854.6:c.1164C>T	ENSP00000298854.2:p.Leu388=
ENST00000352508.7:c.987C>T	ENSP00000298853.3:p.Leu329=
ENST00000524487.5:c.1005C>T	ENSP00000435551.2:p.Leu335=
ENST00000528356.1:n.122-687C>T
ENST00000529341.1:c.987C>T	ENSP00000431732.1:p.Leu329=
XM_005253042.2:c.1110C>T	XP_005253099.1:p.Leu370=
XM_005253042.3:c.1110C>T	XP_005253099.1:p.Leu370=
XM_005253043.2:c.1041C>T	XP_005253100.1:p.Leu347=
XM_005253043.3:c.1041C>T	XP_005253100.1:p.Leu347=
XM_011520252.1:c.1249C>T	XP_011518554.1:p.Gln417Ter
XM_011520253.1:c.1188C>T	XP_011518555.1:p.Leu396=