Canonical Allele Identifier: CA361639175

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 653231
• ClinVar RCV Id: RCV003596593
• dbSNP Id: rs1268068282
• gnomAD v2: 5-147486646-T-C
• gnomAD v4: 5-148107083-T-C
• MyVariant Identifiers: chr5:g.147486646T>C (hg19) ; chr5:g.148107083T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107083T>C , CM000667.2:g.148107083T>C	GRCh38
NC_000005.9:g.147486646T>C , CM000667.1:g.147486646T>C	GRCh37
NC_000005.8:g.147466839T>C	NCBI36
NG_009633.1:g.48112T>C , LRG_110:g.48112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1135T>C
ENST00000256084.8:c.1526T>C MANE Select	ENSP00000256084.7:p.Ile509Thr
ENST00000256084.7:c.1526T>C	ENSP00000256084.7:p.Ile509Thr
ENST00000359874.7:c.1526T>C	ENSP00000352936.3:p.Ile509Thr
ENST00000398454.5:c.1526T>C	ENSP00000381472.1:p.Ile509Thr
ENST00000507988.5:n.1690T>C
ENST00000508733.5:c.1469T>C	ENSP00000421519.1:p.Ile490Thr
NM_001127698.1:c.1526T>C	NP_001121170.1:p.Ile509Thr
NM_001127699.1:c.1526T>C	NP_001121171.1:p.Ile509Thr
NM_006846.3:c.1526T>C , LRG_110t1:c.1526T>C	NP_006837.2:p.Ile509Thr
XM_011537550.1:c.1469T>C	XP_011535852.1:p.Ile490Thr
XM_011537551.1:c.1442T>C	XP_011535853.1:p.Ile481Thr
XM_011537551.2:c.1442T>C	XP_011535853.1:p.Ile481Thr
NM_001127698.2:c.1526T>C	NP_001121170.1:p.Ile509Thr
NM_001127699.2:c.1526T>C	NP_001121171.1:p.Ile509Thr
NM_006846.4:c.1526T>C MANE Select	NP_006837.2:p.Ile509Thr