Canonical Allele Identifier: CA10921737
Gene: RSPO1 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37627051C>T , CM000663.2:g.37627051C>T GRCh38
NC_000001.10:g.38092723C>T , CM000663.1:g.38092723C>T GRCh37
NC_000001.9:g.37865310C>T NCBI36
NG_012239.1:g.12769G>A
NG_012239.2:g.12769G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356545.7:c.94+2517G>A MANE Select ENSP00000348944.2:n.94+2517G>A
ENST00000356545.6:c.94+2517G>A ENSP00000348944.2:n.94+2517G>A
ENST00000401068.1:c.94+2517G>A ENSP00000383846.1:n.94+2517G>A
ENST00000612451.4:c.94+2517G>A ENSP00000479832.1:n.94+2517G>A
ENST00000615459.4:c.13+2838G>A ENSP00000481178.1:n.13+2838G>A
NM_001038633.3:c.94+2517G>A NP_001033722.1:n.94+2517G>A
NM_001242908.1:c.94+2517G>A NP_001229837.1:n.94+2517G>A
NM_001242909.1:c.13+2838G>A NP_001229838.1:n.13+2838G>A
NM_001242910.1:c.94+2517G>A NP_001229839.1:n.94+2517G>A
XM_006710583.2:c.94+2517G>A XP_006710646.1:n.94+2517G>A
XM_006710583.4:c.94+2517G>A XP_006710646.1:n.94+2517G>A
NM_001242908.2:c.94+2517G>A MANE Select NP_001229837.1:n.94+2517G>A
NM_001038633.4:c.94+2517G>A NP_001033722.1:n.94+2517G>A
NM_001242909.2:c.13+2838G>A NP_001229838.1:n.13+2838G>A
NM_001242910.2:c.94+2517G>A NP_001229839.1:n.94+2517G>A