Canonical Allele Identifier: CA361652247

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147510940G>T (hg19) ; chr5:g.148131377G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131377G>T , CM000667.2:g.148131377G>T	GRCh38
NC_000005.9:g.147510940G>T , CM000667.1:g.147510940G>T	GRCh37
NC_000005.8:g.147491133G>T	NCBI36
NG_009633.1:g.72406G>T , LRG_110:g.72406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3083G>T MANE Select	ENSP00000256084.7:p.Cys1028Phe
ENST00000256084.7:c.3083G>T	ENSP00000256084.7:p.Cys1028Phe
ENST00000359874.7:c.3173G>T	ENSP00000352936.3:p.Cys1058Phe
NM_001127698.1:c.3173G>T	NP_001121170.1:p.Cys1058Phe
NM_006846.3:c.3083G>T , LRG_110t1:c.3083G>T	NP_006837.2:p.Cys1028Phe
XM_011537550.1:c.3116G>T	XP_011535852.1:p.Cys1039Phe
XM_011537551.1:c.3089G>T	XP_011535853.1:p.Cys1030Phe
XM_011537551.2:c.3089G>T	XP_011535853.1:p.Cys1030Phe
NM_001127698.2:c.3173G>T	NP_001121170.1:p.Cys1058Phe
NM_006846.4:c.3083G>T MANE Select	NP_006837.2:p.Cys1028Phe