Canonical Allele Identifier: CA201389

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 194856
• ClinVar RCV Id: RCV000175321 ; RCV000345642 ; RCV001711971 ; RCV003761802
• dbSNP Id: rs2303071
• ExAC: 5:147488367 C / T
• gnomAD v2: 5-147488367-C-T
• gnomAD v3: 5-148108804-C-T
• gnomAD v4: 5-148108804-C-T
• MyVariant Identifiers: chr5:g.147488367C>T (hg19) ; chr5:g.148108804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148108804C>T , CM000667.2:g.148108804C>T	GRCh38
NC_000005.9:g.147488367C>T , CM000667.1:g.147488367C>T	GRCh37
NC_000005.8:g.147468560C>T	NCBI36
NG_009633.1:g.49833C>T , LRG_110:g.49833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1268C>T
ENST00000256084.8:c.1659C>T MANE Select	ENSP00000256084.7:p.Val553=
ENST00000256084.7:c.1659C>T	ENSP00000256084.7:p.Val553=
ENST00000359874.7:c.1659C>T	ENSP00000352936.3:p.Val553=
ENST00000398454.5:c.1659C>T	ENSP00000381472.1:p.Val553=
ENST00000507988.5:n.1823C>T
ENST00000508733.5:c.1602C>T	ENSP00000421519.1:p.Val534=
NM_001127698.1:c.1659C>T	NP_001121170.1:p.Val553=
NM_001127699.1:c.1659C>T	NP_001121171.1:p.Val553=
NM_006846.3:c.1659C>T , LRG_110t1:c.1659C>T	NP_006837.2:p.Val553=
XM_011537550.1:c.1602C>T	XP_011535852.1:p.Val534=
XM_011537551.1:c.1575C>T	XP_011535853.1:p.Val525=
XM_011537551.2:c.1575C>T	XP_011535853.1:p.Val525=
NM_001127698.2:c.1659C>T	NP_001121170.1:p.Val553=
NM_001127699.2:c.1659C>T	NP_001121171.1:p.Val553=
NM_006846.4:c.1659C>T MANE Select	NP_006837.2:p.Val553=