Canonical Allele Identifier: CA804397423

Gene: SPOCK1

Linked Data

• dbSNP Id: rs1394078489
• gnomAD v3: 5-137111677-A-G
• gnomAD v4: 5-137111677-A-G
• MyVariant Identifiers: chr5:g.136447366A>G (hg19) ; chr5:g.137111677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137111677A>G , CM000667.2:g.137111677A>G	GRCh38
NC_000005.9:g.136447366A>G , CM000667.1:g.136447366A>G	GRCh37
NC_000005.8:g.136475265A>G	NCBI36
NG_034127.1:g.392653T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394945.6:c.474+758T>C MANE Select	ENSP00000378401.1:n.474+758T>C
ENST00000282223.11:c.288+758T>C	ENSP00000282223.9:n.288+758T>C
ENST00000394945.5:c.474+758T>C	ENSP00000378401.1:n.474+758T>C
ENST00000510689.5:c.39+758T>C	ENSP00000421677.1:n.39+758T>C
ENST00000635347.1:n.447+758T>C
NM_004598.3:c.474+758T>C	NP_004589.1:n.474+758T>C
NM_004598.4:c.474+758T>C MANE Select	NP_004589.1:n.474+758T>C