Canonical Allele Identifier: CA3495891

Gene: SPINK5

Linked Data

• dbSNP Id: rs772561829
• ExAC: 5:147498081 G / T
• gnomAD v2: 5-147498081-G-T
• gnomAD v4: 5-148118518-G-T
• COSMIC: COSM1672024 ; COSM1672025
• MyVariant Identifiers: chr5:g.147498081G>T (hg19) ; chr5:g.148118518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148118518G>T , CM000667.2:g.148118518G>T	GRCh38
NC_000005.9:g.147498081G>T , CM000667.1:g.147498081G>T	GRCh37
NC_000005.8:g.147478274G>T	NCBI36
NG_009633.1:g.59547G>T , LRG_110:g.59547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2194G>T MANE Select	ENSP00000256084.7:p.Asp732Tyr
ENST00000256084.7:c.2194G>T	ENSP00000256084.7:p.Asp732Tyr
ENST00000359874.7:c.2194G>T	ENSP00000352936.3:p.Asp732Tyr
ENST00000398454.5:c.2194G>T	ENSP00000381472.1:p.Asp732Tyr
ENST00000507988.5:n.2358G>T
ENST00000508733.5:c.2137G>T	ENSP00000421519.1:p.Asp713Tyr
NM_001127698.1:c.2194G>T	NP_001121170.1:p.Asp732Tyr
NM_001127699.1:c.2194G>T	NP_001121171.1:p.Asp732Tyr
NM_006846.3:c.2194G>T , LRG_110t1:c.2194G>T	NP_006837.2:p.Asp732Tyr
XM_011537550.1:c.2137G>T	XP_011535852.1:p.Asp713Tyr
XM_011537551.1:c.2110G>T	XP_011535853.1:p.Asp704Tyr
XM_011537551.2:c.2110G>T	XP_011535853.1:p.Asp704Tyr
NM_001127698.2:c.2194G>T	NP_001121170.1:p.Asp732Tyr
NM_001127699.2:c.2194G>T	NP_001121171.1:p.Asp732Tyr
NM_006846.4:c.2194G>T MANE Select	NP_006837.2:p.Asp732Tyr