Canonical Allele Identifier: CA3495877

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 260049
• ClinVar RCV Id: RCV003761871
• dbSNP Id: rs3777134
• ExAC: 5:147498019 G / A
• gnomAD v2: 5-147498019-G-A
• gnomAD v3: 5-148118456-G-A
• gnomAD v4: 5-148118456-G-A
• MyVariant Identifiers: chr5:g.147498019G>A (hg19) ; chr5:g.148118456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148118456G>A , CM000667.2:g.148118456G>A	GRCh38
NC_000005.9:g.147498019G>A , CM000667.1:g.147498019G>A	GRCh37
NC_000005.8:g.147478212G>A	NCBI36
NG_009633.1:g.59485G>A , LRG_110:g.59485G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000256084.8:c.2132G>A MANE Select	ENSP00000256084.7:p.Arg711Gln
ENST00000256084.7:c.2132G>A	ENSP00000256084.7:p.Arg711Gln
ENST00000359874.7:c.2132G>A	ENSP00000352936.3:p.Arg711Gln
ENST00000398454.5:c.2132G>A	ENSP00000381472.1:p.Arg711Gln
ENST00000507988.5:n.2296G>A
ENST00000508733.5:c.2075G>A	ENSP00000421519.1:p.Arg692Gln
NM_001127698.1:c.2132G>A	NP_001121170.1:p.Arg711Gln
NM_001127699.1:c.2132G>A	NP_001121171.1:p.Arg711Gln
NM_006846.3:c.2132G>A , LRG_110t1:c.2132G>A	NP_006837.2:p.Arg711Gln
XM_011537550.1:c.2075G>A	XP_011535852.1:p.Arg692Gln
XM_011537551.1:c.2048G>A	XP_011535853.1:p.Arg683Gln
XM_011537551.2:c.2048G>A	XP_011535853.1:p.Arg683Gln
NM_001127698.2:c.2132G>A	NP_001121170.1:p.Arg711Gln
NM_001127699.2:c.2132G>A	NP_001121171.1:p.Arg711Gln
NM_006846.4:c.2132G>A MANE Select	NP_006837.2:p.Arg711Gln