Canonical Allele Identifier: CA3495652

Gene: SPINK5

Linked Data

• dbSNP Id: rs193173267
• ExAC: 5:147486667 C / T
• gnomAD v2: 5-147486667-C-T
• gnomAD v4: 5-148107104-C-T
• COSMIC: COSM3612172 ; COSM3612173
• MyVariant Identifiers: chr5:g.147486667C>T (hg19) ; chr5:g.148107104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107104C>T , CM000667.2:g.148107104C>T	GRCh38
NC_000005.9:g.147486667C>T , CM000667.1:g.147486667C>T	GRCh37
NC_000005.8:g.147466860C>T	NCBI36
NG_009633.1:g.48133C>T , LRG_110:g.48133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1156C>T
ENST00000256084.8:c.1547C>T MANE Select	ENSP00000256084.7:p.Pro516Leu
ENST00000256084.7:c.1547C>T	ENSP00000256084.7:p.Pro516Leu
ENST00000359874.7:c.1547C>T	ENSP00000352936.3:p.Pro516Leu
ENST00000398454.5:c.1547C>T	ENSP00000381472.1:p.Pro516Leu
ENST00000507988.5:n.1711C>T
ENST00000508733.5:c.1490C>T	ENSP00000421519.1:p.Pro497Leu
NM_001127698.1:c.1547C>T	NP_001121170.1:p.Pro516Leu
NM_001127699.1:c.1547C>T	NP_001121171.1:p.Pro516Leu
NM_006846.3:c.1547C>T , LRG_110t1:c.1547C>T	NP_006837.2:p.Pro516Leu
XM_011537550.1:c.1490C>T	XP_011535852.1:p.Pro497Leu
XM_011537551.1:c.1463C>T	XP_011535853.1:p.Pro488Leu
XM_011537551.2:c.1463C>T	XP_011535853.1:p.Pro488Leu
NM_001127698.2:c.1547C>T	NP_001121170.1:p.Pro516Leu
NM_001127699.2:c.1547C>T	NP_001121171.1:p.Pro516Leu
NM_006846.4:c.1547C>T MANE Select	NP_006837.2:p.Pro516Leu