Canonical Allele Identifier: CA361645459
Community Standard Title: NM_006846.4(SPINK5):c.2240+1G>T
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148118565G>T , CM000667.2:g.148118565G>T GRCh38
NC_000005.9:g.147498128G>T , CM000667.1:g.147498128G>T GRCh37
NC_000005.8:g.147478321G>T NCBI36
NG_009633.1:g.59594G>T , LRG_110:g.59594G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.2240+1G>T MANE Select NP_006837.2:n.2240+1G>T
ENST00000256084.8:c.2240+1G>T MANE Select ENSP00000256084.7:n.2240+1G>T
NM_001127698.1:c.2240+1G>T NP_001121170.1:n.2240+1G>T
NM_001127698.2:c.2240+1G>T NP_001121170.1:n.2240+1G>T
NM_001127699.1:c.2240+1G>T NP_001121171.1:n.2240+1G>T
NM_001127699.2:c.2240+1G>T NP_001121171.1:n.2240+1G>T
NM_006846.3:c.2240+1G>T , LRG_110t1:c.2240+1G>T NP_006837.2:n.2240+1G>T
ENST00000256084.7:c.2240+1G>T ENSP00000256084.7:n.2240+1G>T
ENST00000359874.7:c.2240+1G>T ENSP00000352936.3:n.2240+1G>T
ENST00000398454.5:c.2240+1G>T ENSP00000381472.1:n.2240+1G>T
ENST00000507988.5:n.2404+1G>T
ENST00000508733.5:c.2183+1G>T ENSP00000421519.1:n.2183+1G>T
XM_011537550.1:c.2183+1G>T XP_011535852.1:n.2183+1G>T
XM_011537551.1:c.2156+1G>T XP_011535853.1:n.2156+1G>T
XM_011537551.2:c.2156+1G>T XP_011535853.1:n.2156+1G>T