Canonical Allele Identifier: CA361652077

Gene: SPINK5

Linked Data

• gnomAD v4: 5-148131307-C-T
• MyVariant Identifiers: chr5:g.147510870C>T (hg19) ; chr5:g.148131307C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3013C>T MANE Select	ENSP00000256084.7:p.Leu1005Phe
ENST00000256084.7:c.3013C>T	ENSP00000256084.7:p.Leu1005Phe
ENST00000359874.7:c.3103C>T	ENSP00000352936.3:p.Leu1035Phe
NM_001127698.1:c.3103C>T	NP_001121170.1:p.Leu1035Phe
NM_006846.3:c.3013C>T , LRG_110t1:c.3013C>T	NP_006837.2:p.Leu1005Phe
XM_011537550.1:c.3046C>T	XP_011535852.1:p.Leu1016Phe
XM_011537551.1:c.3019C>T	XP_011535853.1:p.Leu1007Phe
XM_011537551.2:c.3019C>T	XP_011535853.1:p.Leu1007Phe
NM_001127698.2:c.3103C>T	NP_001121170.1:p.Leu1035Phe
NM_006846.4:c.3013C>T MANE Select	NP_006837.2:p.Leu1005Phe