Canonical Allele Identifier: CA380337470
Community Standard Title: NM_005055.5(RAPSN):c.1A>G (p.Met1Val)
Gene: RAPSN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47448964T>C , CM000673.2:g.47448964T>C GRCh38
NC_000011.9:g.47470516T>C , CM000673.1:g.47470516T>C GRCh37
NC_000011.8:g.47427092T>C NCBI36
NG_008312.1:g.5215A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005055.5:c.1A>G MANE Select NP_005046.2:p.Met1Val
ENST00000298854.7:c.1A>G MANE Select ENSP00000298854.2:p.Met1Val
NM_005055.4:c.1A>G NP_005046.2:p.Met1Val
NM_032645.4:c.1A>G NP_116034.2:p.Met1Val
NM_032645.5:c.1A>G NP_116034.2:p.Met1Val
ENST00000298854.6:c.1A>G ENSP00000298854.2:p.Met1Val
ENST00000352508.7:c.1A>G ENSP00000298853.3:p.Met1Val
ENST00000524487.5:c.1A>G ENSP00000435551.2:p.Met1Val
ENST00000529341.1:c.1A>G ENSP00000431732.1:p.Met1Val
XM_005253042.2:c.1A>G XP_005253099.1:p.Met1Val
XM_005253042.3:c.1A>G XP_005253099.1:p.Met1Val
XM_005253043.2:c.1A>G XP_005253100.1:p.Met1Val
XM_005253043.3:c.1A>G XP_005253100.1:p.Met1Val
XM_011520252.1:c.1A>G XP_011518554.1:p.Met1Val
XM_011520253.1:c.1A>G XP_011518555.1:p.Met1Val