Canonical Allele Identifier: CA128634955

Gene: SPOCK1

Linked Data

• dbSNP Id: rs867389216
• gnomAD v2: 5-136447354-G-A
• gnomAD v3: 5-137111665-G-A
• gnomAD v4: 5-137111665-G-A
• MyVariant Identifiers: chr5:g.136447354G>A (hg19) ; chr5:g.137111665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137111665G>A , CM000667.2:g.137111665G>A	GRCh38
NC_000005.9:g.136447354G>A , CM000667.1:g.136447354G>A	GRCh37
NC_000005.8:g.136475253G>A	NCBI36
NG_034127.1:g.392665C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394945.6:c.474+770C>T MANE Select	ENSP00000378401.1:n.474+770C>T
ENST00000282223.11:c.288+770C>T	ENSP00000282223.9:n.288+770C>T
ENST00000394945.5:c.474+770C>T	ENSP00000378401.1:n.474+770C>T
ENST00000510689.5:c.39+770C>T	ENSP00000421677.1:n.39+770C>T
ENST00000635347.1:n.447+770C>T
NM_004598.3:c.474+770C>T	NP_004589.1:n.474+770C>T
NM_004598.4:c.474+770C>T MANE Select	NP_004589.1:n.474+770C>T