Canonical Allele Identifier: CA361652073

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147510870C>A (hg19) ; chr5:g.148131307C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131307C>A , CM000667.2:g.148131307C>A	GRCh38
NC_000005.9:g.147510870C>A , CM000667.1:g.147510870C>A	GRCh37
NC_000005.8:g.147491063C>A	NCBI36
NG_009633.1:g.72336C>A , LRG_110:g.72336C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3013C>A MANE Select	ENSP00000256084.7:p.Leu1005Ile
ENST00000256084.7:c.3013C>A	ENSP00000256084.7:p.Leu1005Ile
ENST00000359874.7:c.3103C>A	ENSP00000352936.3:p.Leu1035Ile
NM_001127698.1:c.3103C>A	NP_001121170.1:p.Leu1035Ile
NM_006846.3:c.3013C>A , LRG_110t1:c.3013C>A	NP_006837.2:p.Leu1005Ile
XM_011537550.1:c.3046C>A	XP_011535852.1:p.Leu1016Ile
XM_011537551.1:c.3019C>A	XP_011535853.1:p.Leu1007Ile
XM_011537551.2:c.3019C>A	XP_011535853.1:p.Leu1007Ile
NM_001127698.2:c.3103C>A	NP_001121170.1:p.Leu1035Ile
NM_006846.4:c.3013C>A MANE Select	NP_006837.2:p.Leu1005Ile