Canonical Allele Identifier: CA117360

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 5266
• ClinVar RCV Id: RCV003318539 ; RCV003595852
• dbSNP Id: rs121908387
• gnomAD v4: 5-148120063-C-T
• MyVariant Identifiers: chr5:g.147499626C>T (hg19) ; chr5:g.148120063C>T (hg38)
• PubMed: PMID:10835624

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148120063C>T , CM000667.2:g.148120063C>T	GRCh38
NC_000005.9:g.147499626C>T , CM000667.1:g.147499626C>T	GRCh37
NC_000005.8:g.147479819C>T	NCBI36
NG_009633.1:g.61092C>T , LRG_110:g.61092C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256084.8:c.2368C>T MANE Select	ENSP00000256084.7:p.Arg790Ter
ENST00000256084.7:c.2368C>T	ENSP00000256084.7:p.Arg790Ter
ENST00000359874.7:c.2368C>T	ENSP00000352936.3:p.Arg790Ter
ENST00000398454.5:c.2368C>T	ENSP00000381472.1:p.Arg790Ter
ENST00000508733.5:c.2311C>T	ENSP00000421519.1:p.Arg771Ter
NM_001127698.1:c.2368C>T	NP_001121170.1:p.Arg790Ter
NM_001127699.1:c.2368C>T	NP_001121171.1:p.Arg790Ter
NM_006846.3:c.2368C>T , LRG_110t1:c.2368C>T	NP_006837.2:p.Arg790Ter
XM_011537550.1:c.2311C>T	XP_011535852.1:p.Arg771Ter
XM_011537551.1:c.2284C>T	XP_011535853.1:p.Arg762Ter
XM_011537551.2:c.2284C>T	XP_011535853.1:p.Arg762Ter
NM_001127698.2:c.2368C>T	NP_001121170.1:p.Arg790Ter
NM_001127699.2:c.2368C>T	NP_001121171.1:p.Arg790Ter
NM_006846.4:c.2368C>T MANE Select	NP_006837.2:p.Arg790Ter