Canonical Allele Identifier: CA1098836221
Gene: SOSTDC1 HGNC NCBI
CRPPA HGNC NCBI

Linked Data

dbSNP Id: rs1781247208
gnomAD v3: 7-16463519-A-C
gnomAD v4: 7-16463519-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16463519A>C , CM000669.2:g.16463519A>C GRCh38
NC_000007.13:g.16503144A>C , CM000669.1:g.16503144A>C GRCh37
NC_000007.12:g.16469669A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000307068.5:c.206-556T>G (SOSTDC1) MANE Select ENSP00000304930.4:n.206-556T>G
ENST00000674759.1:c.-47+32861T>G (CRPPA) ENSP00000502749.1:n.-47+32861T>G
ENST00000675257.1:c.-47+32861T>G (CRPPA) ENSP00000501664.1:n.-47+32861T>G
ENST00000307068.4:c.206-556T>G (SOSTDC1) ENSP00000304930.4:n.206-556T>G
ENST00000396652.1:c.278-556T>G (SOSTDC1) ENSP00000379889.1:n.278-556T>G
NM_015464.2:c.206-556T>G (SOSTDC1) NP_056279.1:n.206-556T>G
XM_011515502.1:c.-47+32861T>G (CRPPA) XP_011513804.1:n.-47+32861T>G
XM_011515503.1:c.-47+32861T>G (CRPPA) XP_011513805.1:n.-47+32861T>G
XM_011515504.1:c.-47+32861T>G (CRPPA) XP_011513806.1:n.-47+32861T>G
XM_011515505.1:c.-47+32861T>G (CRPPA) XP_011513807.1:n.-47+32861T>G
XM_011515506.1:c.-47+32861T>G (CRPPA) XP_011513808.1:n.-47+32861T>G
XM_011515507.1:c.-47+32861T>G (CRPPA) XP_011513809.1:n.-47+32861T>G
XR_927059.1:n.1117+2203A>C
XM_024446909.1:c.-47+32861T>G (CRPPA) XP_024302677.1:n.-47+32861T>G
XM_024446910.1:c.-47+32861T>G (CRPPA) XP_024302678.1:n.-47+32861T>G
XM_024446911.1:c.-47+32861T>G (CRPPA) XP_024302679.1:n.-47+32861T>G
XR_001745102.1:n.548A>C
NM_015464.3:c.206-556T>G (SOSTDC1) MANE Select NP_056279.1:n.206-556T>G