Canonical Allele Identifier: CA361651915

Gene: SPINK5

Linked Data

• dbSNP Id: rs1167536522
• gnomAD v2: 5-147510834-T-C
• gnomAD v4: 5-148131271-T-C
• COSMIC: COSM5797213 ; COSM5797214
• MyVariant Identifiers: chr5:g.147510834T>C (hg19) ; chr5:g.148131271T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131271T>C , CM000667.2:g.148131271T>C	GRCh38
NC_000005.9:g.147510834T>C , CM000667.1:g.147510834T>C	GRCh37
NC_000005.8:g.147491027T>C	NCBI36
NG_009633.1:g.72300T>C , LRG_110:g.72300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2977T>C MANE Select	ENSP00000256084.7:p.Cys993Arg
ENST00000256084.7:c.2977T>C	ENSP00000256084.7:p.Cys993Arg
ENST00000359874.7:c.3067T>C	ENSP00000352936.3:p.Cys1023Arg
NM_001127698.1:c.3067T>C	NP_001121170.1:p.Cys1023Arg
NM_006846.3:c.2977T>C , LRG_110t1:c.2977T>C	NP_006837.2:p.Cys993Arg
XM_011537550.1:c.3010T>C	XP_011535852.1:p.Cys1004Arg
XM_011537551.1:c.2983T>C	XP_011535853.1:p.Cys995Arg
XM_011537551.2:c.2983T>C	XP_011535853.1:p.Cys995Arg
NM_001127698.2:c.3067T>C	NP_001121170.1:p.Cys1023Arg
NM_006846.4:c.2977T>C MANE Select	NP_006837.2:p.Cys993Arg