Canonical Allele Identifier: CA2834455041

Gene: SPOCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137111685T>C , CM000667.2:g.137111685T>C	GRCh38
NC_000005.9:g.136447374T>C , CM000667.1:g.136447374T>C	GRCh37
NC_000005.8:g.136475273T>C	NCBI36
NG_034127.1:g.392645A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394945.6:c.474+750A>G MANE Select	ENSP00000378401.1:n.474+750A>G
ENST00000282223.11:c.288+750A>G	ENSP00000282223.9:n.288+750A>G
ENST00000394945.5:c.474+750A>G	ENSP00000378401.1:n.474+750A>G
ENST00000510689.5:c.39+750A>G	ENSP00000421677.1:n.39+750A>G
ENST00000635347.1:n.447+750A>G
NM_004598.3:c.474+750A>G	NP_004589.1:n.474+750A>G
NM_004598.4:c.474+750A>G MANE Select	NP_004589.1:n.474+750A>G