Canonical Allele Identifier: CA361645119

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147498093T>A (hg19) ; chr5:g.148118530T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148118530T>A , CM000667.2:g.148118530T>A	GRCh38
NC_000005.9:g.147498093T>A , CM000667.1:g.147498093T>A	GRCh37
NC_000005.8:g.147478286T>A	NCBI36
NG_009633.1:g.59559T>A , LRG_110:g.59559T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2206T>A MANE Select	ENSP00000256084.7:p.Tyr736Asn
ENST00000256084.7:c.2206T>A	ENSP00000256084.7:p.Tyr736Asn
ENST00000359874.7:c.2206T>A	ENSP00000352936.3:p.Tyr736Asn
ENST00000398454.5:c.2206T>A	ENSP00000381472.1:p.Tyr736Asn
ENST00000507988.5:n.2370T>A
ENST00000508733.5:c.2149T>A	ENSP00000421519.1:p.Tyr717Asn
NM_001127698.1:c.2206T>A	NP_001121170.1:p.Tyr736Asn
NM_001127699.1:c.2206T>A	NP_001121171.1:p.Tyr736Asn
NM_006846.3:c.2206T>A , LRG_110t1:c.2206T>A	NP_006837.2:p.Tyr736Asn
XM_011537550.1:c.2149T>A	XP_011535852.1:p.Tyr717Asn
XM_011537551.1:c.2122T>A	XP_011535853.1:p.Tyr708Asn
XM_011537551.2:c.2122T>A	XP_011535853.1:p.Tyr708Asn
NM_001127698.2:c.2206T>A	NP_001121170.1:p.Tyr736Asn
NM_001127699.2:c.2206T>A	NP_001121171.1:p.Tyr736Asn
NM_006846.4:c.2206T>A MANE Select	NP_006837.2:p.Tyr736Asn