Canonical Allele Identifier: CA9638750

Gene: NLRP12

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53794089G>A , CM000681.2:g.53794089G>A	GRCh38
NC_000019.9:g.54297343G>A , CM000681.1:g.54297343G>A	GRCh37
NC_000019.8:g.58989155G>A	NCBI36
NG_008651.1:g.35306C>T
NG_008651.2:g.35306C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391773.7:c.3149C>T	ENSP00000375653.1:p.Ala1050Val
ENST00000324134.11:c.3146C>T MANE Select	ENSP00000319377.6:p.Ala1049Val
ENST00000391773.6:c.3149C>T	ENSP00000375653.1:p.Ala1050Val
ENST00000324134.10:c.3146C>T	ENSP00000319377.6:p.Ala1049Val
ENST00000345770.9:c.2981C>T	ENSP00000341428.5:p.Ala994Val
ENST00000391772.1:c.2639C>T	ENSP00000375652.1:p.Ala880Val
ENST00000391773.5:c.3149C>T	ENSP00000375653.1:p.Ala1050Val
ENST00000391775.7:c.2975C>T	ENSP00000375655.3:p.Ala992Val
ENST00000492915.1:n.2133C>T
NM_001277126.1:c.3149C>T	NP_001264055.1:p.Ala1050Val
NM_001277129.1:c.2975C>T	NP_001264058.1:p.Ala992Val
NM_144687.3:c.3146C>T	NP_653288.1:p.Ala1049Val
XM_011527478.1:c.2981C>T	XP_011525780.1:p.Ala994Val
XM_011527479.1:c.2978C>T	XP_011525781.1:p.Ala993Val
XM_011527480.1:c.2978C>T	XP_011525782.1:p.Ala993Val
XM_011527482.1:c.2807C>T	XP_011525784.1:p.Ala936Val
XM_011527483.1:c.2633C>T	XP_011525785.1:p.Ala878Val
XM_017027460.1:c.3146C>T	XP_016882949.1:p.Ala1049Val
XM_017027461.1:c.2978C>T	XP_016882950.1:p.Ala993Val
XM_017027462.1:c.2975C>T	XP_016882951.1:p.Ala992Val
XM_017027463.1:c.2732C>T	XP_016882952.1:p.Ala911Val
XM_017027464.1:c.2732C>T	XP_016882953.1:p.Ala911Val
XM_017027465.1:c.2732C>T	XP_016882954.1:p.Ala911Val
XM_017027466.1:c.2732C>T	XP_016882955.1:p.Ala911Val
XM_017027467.1:c.2732C>T	XP_016882956.1:p.Ala911Val
NM_001277126.2:c.3149C>T	NP_001264055.1:p.Ala1050Val
NM_144687.4:c.3146C>T MANE Select	NP_653288.1:p.Ala1049Val