Canonical Allele Identifier: CA361652150

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147510899T>G (hg19) ; chr5:g.148131336T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131336T>G , CM000667.2:g.148131336T>G	GRCh38
NC_000005.9:g.147510899T>G , CM000667.1:g.147510899T>G	GRCh37
NC_000005.8:g.147491092T>G	NCBI36
NG_009633.1:g.72365T>G , LRG_110:g.72365T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3042T>G MANE Select	ENSP00000256084.7:p.Cys1014Trp
ENST00000256084.7:c.3042T>G	ENSP00000256084.7:p.Cys1014Trp
ENST00000359874.7:c.3132T>G	ENSP00000352936.3:p.Cys1044Trp
NM_001127698.1:c.3132T>G	NP_001121170.1:p.Cys1044Trp
NM_006846.3:c.3042T>G , LRG_110t1:c.3042T>G	NP_006837.2:p.Cys1014Trp
XM_011537550.1:c.3075T>G	XP_011535852.1:p.Cys1025Trp
XM_011537551.1:c.3048T>G	XP_011535853.1:p.Cys1016Trp
XM_011537551.2:c.3048T>G	XP_011535853.1:p.Cys1016Trp
NM_001127698.2:c.3132T>G	NP_001121170.1:p.Cys1044Trp
NM_006846.4:c.3042T>G MANE Select	NP_006837.2:p.Cys1014Trp