Canonical Allele Identifier: CA3495877
Gene: SPINK5 HGNC NCBI
COSMIC:
COSM149974 (not active)
COSM4003386 (not active)
MyVariant.info:
GRCh38 chr5:g.148118456G>A
GRCh37 chr5:g.147498019G>A
Revel Score:
ENST00000398454 0.027
ENST00000359874 0.027
ENST00000508733 0.027
ENST00000256084 (MANE Select) 0.027
gnomAD v2:
5:147498019 G / A
gnomAD v3:
5:148118456 G / A
gnomAD v4:
chr5-148118456-G-A
Joint Max Group AF 0.69883903 (AMR)
Genomes Max Group AF 0.62973787 (AMR)
Exomes Max Group AF 0.71974965 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148118456G>A , CM000667.2:g.148118456G>A GRCh38
NC_000005.9:g.147498019G>A , CM000667.1:g.147498019G>A GRCh37
NC_000005.8:g.147478212G>A NCBI36
NG_009633.1:g.59485G>A , LRG_110:g.59485G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.2132G>A MANE Select ENSP00000256084.7:p.Arg711Gln
ENST00000256084.7:c.2132G>A ENSP00000256084.7:p.Arg711Gln
ENST00000359874.7:c.2132G>A ENSP00000352936.3:p.Arg711Gln
ENST00000398454.5:c.2132G>A ENSP00000381472.1:p.Arg711Gln
ENST00000507988.5:n.2296G>A
ENST00000508733.5:c.2075G>A ENSP00000421519.1:p.Arg692Gln
NM_001127698.1:c.2132G>A NP_001121170.1:p.Arg711Gln
NM_001127699.1:c.2132G>A NP_001121171.1:p.Arg711Gln
NM_006846.3:c.2132G>A , LRG_110t1:c.2132G>A NP_006837.2:p.Arg711Gln
XM_011537550.1:c.2075G>A XP_011535852.1:p.Arg692Gln
XM_011537551.1:c.2048G>A XP_011535853.1:p.Arg683Gln
XM_011537551.2:c.2048G>A XP_011535853.1:p.Arg683Gln
NM_001127698.2:c.2132G>A NP_001121170.1:p.Arg711Gln
NM_001127699.2:c.2132G>A NP_001121171.1:p.Arg711Gln
NM_006846.4:c.2132G>A MANE Select NP_006837.2:p.Arg711Gln
Search 100 bp 5'
Search 100 bp 3'