Canonical Allele Identifier: CA361635630
Community Standard Title: NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148099235C>T , CM000667.2:g.148099235C>T GRCh38
NC_000005.9:g.147478798C>T , CM000667.1:g.147478798C>T GRCh37
NC_000005.8:g.147458991C>T NCBI36
NG_009633.1:g.40264C>T , LRG_110:g.40264C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.1012C>T MANE Select NP_006837.2:p.Gln338Ter
ENST00000256084.8:c.1012C>T MANE Select ENSP00000256084.7:p.Gln338Ter
NM_001127698.1:c.1012C>T NP_001121170.1:p.Gln338Ter
NM_001127698.2:c.1012C>T NP_001121170.1:p.Gln338Ter
NM_001127699.1:c.1012C>T NP_001121171.1:p.Gln338Ter
NM_001127699.2:c.1012C>T NP_001121171.1:p.Gln338Ter
NM_006846.3:c.1012C>T , LRG_110t1:c.1012C>T NP_006837.2:p.Gln338Ter
ENST00000256084.7:c.1012C>T ENSP00000256084.7:p.Gln338Ter
ENST00000359874.7:c.1012C>T ENSP00000352936.3:p.Gln338Ter
ENST00000398454.5:c.1012C>T ENSP00000381472.1:p.Gln338Ter
ENST00000476608.1:n.528C>T
ENST00000481286.6:n.621C>T
ENST00000507988.5:n.1176C>T
ENST00000508733.5:c.955C>T ENSP00000421519.1:p.Gln319Ter
XM_011537550.1:c.955C>T XP_011535852.1:p.Gln319Ter
XM_011537551.1:c.928C>T XP_011535853.1:p.Gln310Ter
XM_011537551.2:c.928C>T XP_011535853.1:p.Gln310Ter