Canonical Allele Identifier: CA16604889

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 379560
• ClinVar RCV Id: RCV000434233
• dbSNP Id: rs1057520643
• MyVariant Identifiers: chr5:g.147503479T>A (hg19) ; chr5:g.148123916T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148123916T>A , CM000667.2:g.148123916T>A	GRCh38
NC_000005.9:g.147503479T>A , CM000667.1:g.147503479T>A	GRCh37
NC_000005.8:g.147483672T>A	NCBI36
NG_009633.1:g.64945T>A , LRG_110:g.64945T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000256084.8:c.2622T>A MANE Select	ENSP00000256084.7:p.Tyr874Ter
ENST00000256084.7:c.2622T>A	ENSP00000256084.7:p.Tyr874Ter
ENST00000359874.7:c.2622T>A	ENSP00000352936.3:p.Tyr874Ter
ENST00000398454.5:c.2622T>A	ENSP00000381472.1:p.Tyr874Ter
ENST00000508733.5:c.2565T>A	ENSP00000421519.1:p.Tyr855Ter
NM_001127698.1:c.2622T>A	NP_001121170.1:p.Tyr874Ter
NM_001127699.1:c.2622T>A	NP_001121171.1:p.Tyr874Ter
NM_006846.3:c.2622T>A , LRG_110t1:c.2622T>A	NP_006837.2:p.Tyr874Ter
XM_011537550.1:c.2565T>A	XP_011535852.1:p.Tyr855Ter
XM_011537551.1:c.2538T>A	XP_011535853.1:p.Tyr846Ter
XM_011537551.2:c.2538T>A	XP_011535853.1:p.Tyr846Ter
NM_001127698.2:c.2622T>A	NP_001121170.1:p.Tyr874Ter
NM_001127699.2:c.2622T>A	NP_001121171.1:p.Tyr874Ter
NM_006846.4:c.2622T>A MANE Select	NP_006837.2:p.Tyr874Ter