Canonical Allele Identifier: CA407970524
Community Standard Title: NM_001029871.4(RSPO4):c.194A>T (p.Gln65Leu)
Gene: RSPO4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.968024T>A , CM000682.2:g.968024T>A GRCh38
NC_000020.10:g.948667T>A , CM000682.1:g.948667T>A GRCh37
NC_000020.9:g.896667T>A NCBI36
NG_013043.1:g.39241A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001029871.4:c.194A>T MANE Select NP_001025042.2:p.Gln65Leu
ENST00000217260.9:c.194A>T MANE Select ENSP00000217260.4:p.Gln65Leu
NM_001029871.3:c.194A>T NP_001025042.2:p.Gln65Leu
NM_001040007.2:c.194A>T NP_001035096.1:p.Gln65Leu
NM_001040007.3:c.194A>T NP_001035096.1:p.Gln65Leu
ENST00000217260.8:c.194A>T ENSP00000217260.4:p.Gln65Leu
ENST00000400634.2:c.194A>T ENSP00000383475.2:p.Gln65Leu
XM_011529232.1:c.242A>T XP_011527534.1:p.Gln81Leu
XM_011529233.1:c.242A>T XP_011527535.1:p.Gln81Leu
XM_017027839.1:c.194A>T XP_016883328.1:p.Gln65Leu
XR_937068.1:n.314A>T
XR_937069.1:n.309A>T