Canonical Allele Identifier: CA361639204

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 1998084
• ClinVar RCV Id: RCV003763229
• MyVariant Identifiers: chr5:g.147486658A>T (hg19) ; chr5:g.148107095A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107095A>T , CM000667.2:g.148107095A>T	GRCh38
NC_000005.9:g.147486658A>T , CM000667.1:g.147486658A>T	GRCh37
NC_000005.8:g.147466851A>T	NCBI36
NG_009633.1:g.48124A>T , LRG_110:g.48124A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1147A>T
ENST00000256084.8:c.1538A>T MANE Select	ENSP00000256084.7:p.Glu513Val
ENST00000256084.7:c.1538A>T	ENSP00000256084.7:p.Glu513Val
ENST00000359874.7:c.1538A>T	ENSP00000352936.3:p.Glu513Val
ENST00000398454.5:c.1538A>T	ENSP00000381472.1:p.Glu513Val
ENST00000507988.5:n.1702A>T
ENST00000508733.5:c.1481A>T	ENSP00000421519.1:p.Glu494Val
NM_001127698.1:c.1538A>T	NP_001121170.1:p.Glu513Val
NM_001127699.1:c.1538A>T	NP_001121171.1:p.Glu513Val
NM_006846.3:c.1538A>T , LRG_110t1:c.1538A>T	NP_006837.2:p.Glu513Val
XM_011537550.1:c.1481A>T	XP_011535852.1:p.Glu494Val
XM_011537551.1:c.1454A>T	XP_011535853.1:p.Glu485Val
XM_011537551.2:c.1454A>T	XP_011535853.1:p.Glu485Val
NM_001127698.2:c.1538A>T	NP_001121170.1:p.Glu513Val
NM_001127699.2:c.1538A>T	NP_001121171.1:p.Glu513Val
NM_006846.4:c.1538A>T MANE Select	NP_006837.2:p.Glu513Val