Canonical Allele Identifier: CA361652037

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147510861A>T (hg19) ; chr5:g.148131298A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131298A>T , CM000667.2:g.148131298A>T	GRCh38
NC_000005.9:g.147510861A>T , CM000667.1:g.147510861A>T	GRCh37
NC_000005.8:g.147491054A>T	NCBI36
NG_009633.1:g.72327A>T , LRG_110:g.72327A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3004A>T MANE Select	ENSP00000256084.7:p.Ile1002Leu
ENST00000256084.7:c.3004A>T	ENSP00000256084.7:p.Ile1002Leu
ENST00000359874.7:c.3094A>T	ENSP00000352936.3:p.Ile1032Leu
NM_001127698.1:c.3094A>T	NP_001121170.1:p.Ile1032Leu
NM_006846.3:c.3004A>T , LRG_110t1:c.3004A>T	NP_006837.2:p.Ile1002Leu
XM_011537550.1:c.3037A>T	XP_011535852.1:p.Ile1013Leu
XM_011537551.1:c.3010A>T	XP_011535853.1:p.Ile1004Leu
XM_011537551.2:c.3010A>T	XP_011535853.1:p.Ile1004Leu
NM_001127698.2:c.3094A>T	NP_001121170.1:p.Ile1032Leu
NM_006846.4:c.3004A>T MANE Select	NP_006837.2:p.Ile1002Leu