Canonical Allele Identifier: CA128634956
Gene: SPOCK1 HGNC NCBI

Linked Data

dbSNP Id: rs569187511
gnomAD v2: 5-136447372-T-C
gnomAD v3: 5-137111683-T-C
gnomAD v4: 5-137111683-T-C
MyVariant Identifiers: chr5:g.136447372T>C (hg19) chr5:g.137111683T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137111683T>C , CM000667.2:g.137111683T>C GRCh38
NC_000005.9:g.136447372T>C , CM000667.1:g.136447372T>C GRCh37
NC_000005.8:g.136475271T>C NCBI36
NG_034127.1:g.392647A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394945.6:c.474+752A>G MANE Select ENSP00000378401.1:n.474+752A>G
ENST00000282223.11:c.288+752A>G ENSP00000282223.9:n.288+752A>G
ENST00000394945.5:c.474+752A>G ENSP00000378401.1:n.474+752A>G
ENST00000510689.5:c.39+752A>G ENSP00000421677.1:n.39+752A>G
ENST00000635347.1:n.447+752A>G
NM_004598.3:c.474+752A>G NP_004589.1:n.474+752A>G
NM_004598.4:c.474+752A>G MANE Select NP_004589.1:n.474+752A>G
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