Canonical Allele Identifier: CA361891087

Gene: SPINK5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148094366G>T , CM000667.2:g.148094366G>T	GRCh38
NC_000005.9:g.147473929G>T , CM000667.1:g.147473929G>T	GRCh37
NC_000005.8:g.147454122G>T	NCBI36
NG_009633.1:g.35395G>T , LRG_110:g.35395G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006846.4:c.679G>T MANE Select	NP_006837.2:p.Glu227Ter
ENST00000256084.8:c.679G>T MANE Select	ENSP00000256084.7:p.Glu227Ter
NM_001127698.1:c.679G>T	NP_001121170.1:p.Glu227Ter
NM_001127698.2:c.679G>T	NP_001121170.1:p.Glu227Ter
NM_001127699.1:c.679G>T	NP_001121171.1:p.Glu227Ter
NM_001127699.2:c.679G>T	NP_001121171.1:p.Glu227Ter
NM_006846.3:c.679G>T , LRG_110t1:c.679G>T	NP_006837.2:p.Glu227Ter
ENST00000256084.7:c.679G>T	ENSP00000256084.7:p.Glu227Ter
ENST00000359874.7:c.679G>T	ENSP00000352936.3:p.Glu227Ter
ENST00000398454.5:c.679G>T	ENSP00000381472.1:p.Glu227Ter
ENST00000476608.1:n.195G>T
ENST00000476697.7:c.*204G>T	ENSP00000427943.1:n.*204G>T
ENST00000481286.5:n.125G>T
ENST00000481286.6:n.288G>T
ENST00000507988.5:n.843G>T
ENST00000508733.5:c.622G>T	ENSP00000421519.1:p.Glu208Ter
ENST00000698105.1:n.549G>T
XM_011537550.1:c.622G>T	XP_011535852.1:p.Glu208Ter
XM_011537551.1:c.595G>T	XP_011535853.1:p.Glu199Ter
XM_011537551.2:c.595G>T	XP_011535853.1:p.Glu199Ter