Canonical Allele Identifier: CA3495297

Gene: SPINK5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148091211C>T , CM000667.2:g.148091211C>T	GRCh38
NC_000005.9:g.147470774C>T , CM000667.1:g.147470774C>T	GRCh37
NC_000005.8:g.147450967C>T	NCBI36
NG_009633.1:g.32240C>T , LRG_110:g.32240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.258C>T
ENST00000698105.1:n.519C>T
ENST00000256084.8:c.649C>T MANE Select	ENSP00000256084.7:p.Arg217Ter
ENST00000256084.7:c.649C>T	ENSP00000256084.7:p.Arg217Ter
ENST00000359874.7:c.649C>T	ENSP00000352936.3:p.Arg217Ter
ENST00000398454.5:c.649C>T	ENSP00000381472.1:p.Arg217Ter
ENST00000476608.1:n.165C>T
ENST00000476697.7:c.*174C>T	ENSP00000427943.1:n.*174C>T
ENST00000481286.5:n.95C>T
ENST00000507988.5:n.813C>T
ENST00000508733.5:c.592C>T	ENSP00000421519.1:p.Arg198Ter
NM_001127698.1:c.649C>T	NP_001121170.1:p.Arg217Ter
NM_001127699.1:c.649C>T	NP_001121171.1:p.Arg217Ter
NM_006846.3:c.649C>T , LRG_110t1:c.649C>T	NP_006837.2:p.Arg217Ter
XM_011537550.1:c.592C>T	XP_011535852.1:p.Arg198Ter
XM_011537551.1:c.565C>T	XP_011535853.1:p.Arg189Ter
XM_011537551.2:c.565C>T	XP_011535853.1:p.Arg189Ter
NM_001127698.2:c.649C>T	NP_001121170.1:p.Arg217Ter
NM_001127699.2:c.649C>T	NP_001121171.1:p.Arg217Ter
NM_006846.4:c.649C>T MANE Select	NP_006837.2:p.Arg217Ter