Canonical Allele Identifier: CA361652139

Gene: SPINK5

Linked Data

• COSMIC: COSM76569
• MyVariant Identifiers: chr5:g.147510894G>C (hg19) ; chr5:g.148131331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131331G>C , CM000667.2:g.148131331G>C	GRCh38
NC_000005.9:g.147510894G>C , CM000667.1:g.147510894G>C	GRCh37
NC_000005.8:g.147491087G>C	NCBI36
NG_009633.1:g.72360G>C , LRG_110:g.72360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3037G>C MANE Select	ENSP00000256084.7:p.Val1013Leu
ENST00000256084.7:c.3037G>C	ENSP00000256084.7:p.Val1013Leu
ENST00000359874.7:c.3127G>C	ENSP00000352936.3:p.Val1043Leu
NM_001127698.1:c.3127G>C	NP_001121170.1:p.Val1043Leu
NM_006846.3:c.3037G>C , LRG_110t1:c.3037G>C	NP_006837.2:p.Val1013Leu
XM_011537550.1:c.3070G>C	XP_011535852.1:p.Val1024Leu
XM_011537551.1:c.3043G>C	XP_011535853.1:p.Val1015Leu
XM_011537551.2:c.3043G>C	XP_011535853.1:p.Val1015Leu
NM_001127698.2:c.3127G>C	NP_001121170.1:p.Val1043Leu
NM_006846.4:c.3037G>C MANE Select	NP_006837.2:p.Val1013Leu