Canonical Allele Identifier: CA361890962
Community Standard Title: NM_006846.4(SPINK5):c.666+1G>T
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148091229G>T , CM000667.2:g.148091229G>T GRCh38
NC_000005.9:g.147470792G>T , CM000667.1:g.147470792G>T GRCh37
NC_000005.8:g.147450985G>T NCBI36
NG_009633.1:g.32258G>T , LRG_110:g.32258G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.666+1G>T MANE Select NP_006837.2:n.666+1G>T
ENST00000256084.8:c.666+1G>T MANE Select ENSP00000256084.7:n.666+1G>T
NM_001127698.1:c.666+1G>T NP_001121170.1:n.666+1G>T
NM_001127698.2:c.666+1G>T NP_001121170.1:n.666+1G>T
NM_001127699.1:c.666+1G>T NP_001121171.1:n.666+1G>T
NM_001127699.2:c.666+1G>T NP_001121171.1:n.666+1G>T
NM_006846.3:c.666+1G>T , LRG_110t1:c.666+1G>T NP_006837.2:n.666+1G>T
ENST00000256084.7:c.666+1G>T ENSP00000256084.7:n.666+1G>T
ENST00000359874.7:c.666+1G>T ENSP00000352936.3:n.666+1G>T
ENST00000398454.5:c.666+1G>T ENSP00000381472.1:n.666+1G>T
ENST00000476608.1:n.182+1G>T
ENST00000476697.7:c.*191+1G>T ENSP00000427943.1:n.*191+1G>T
ENST00000481286.5:n.112+1G>T
ENST00000481286.6:n.275+1G>T
ENST00000507988.5:n.830+1G>T
ENST00000508733.5:c.609+1G>T ENSP00000421519.1:n.609+1G>T
ENST00000698105.1:n.536+1G>T
XM_011537550.1:c.609+1G>T XP_011535852.1:n.609+1G>T
XM_011537551.1:c.582+1G>T XP_011535853.1:n.582+1G>T
XM_011537551.2:c.582+1G>T XP_011535853.1:n.582+1G>T