Canonical Allele Identifier: CA407411365

Gene: NLRP12

Linked Data

• MyVariant Identifiers: chr19:g.54310870C>A (hg19) ; chr19:g.53807616C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53807616C>A , CM000681.2:g.53807616C>A	GRCh38
NC_000019.9:g.54310870C>A , CM000681.1:g.54310870C>A	GRCh37
NC_000019.8:g.59002682C>A	NCBI36
NG_008651.1:g.21779G>T
NG_008651.2:g.21779G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391773.7:c.2125G>T	ENSP00000375653.1:p.Ala709Ser
ENST00000324134.11:c.2122G>T MANE Select	ENSP00000319377.6:p.Ala708Ser
ENST00000391773.6:c.2125G>T	ENSP00000375653.1:p.Ala709Ser
ENST00000324134.10:c.2122G>T	ENSP00000319377.6:p.Ala708Ser
ENST00000345770.9:c.2125G>T	ENSP00000341428.5:p.Ala709Ser
ENST00000391772.1:c.2125G>T	ENSP00000375652.1:p.Ala709Ser
ENST00000391773.5:c.2125G>T	ENSP00000375653.1:p.Ala709Ser
ENST00000391775.7:c.2122G>T	ENSP00000375655.3:p.Ala708Ser
ENST00000492915.1:n.1090G>T
NM_001277126.1:c.2125G>T	NP_001264055.1:p.Ala709Ser
NM_001277129.1:c.2122G>T	NP_001264058.1:p.Ala708Ser
NM_144687.3:c.2122G>T	NP_653288.1:p.Ala708Ser
XM_011527478.1:c.1957G>T	XP_011525780.1:p.Ala653Ser
XM_011527479.1:c.2125G>T	XP_011525781.1:p.Ala709Ser
XM_011527480.1:c.2125G>T	XP_011525782.1:p.Ala709Ser
XM_011527481.1:c.2125G>T	XP_011525783.1:p.Ala709Ser
XM_011527482.1:c.2125G>T	XP_011525784.1:p.Ala709Ser
XM_011527483.1:c.2072+1971G>T	XP_011525785.1:n.2072+1971G>T
XM_017027460.1:c.2125G>T	XP_016882949.1:p.Ala709Ser
XM_017027461.1:c.2125G>T	XP_016882950.1:p.Ala709Ser
XM_017027462.1:c.2072+1971G>T	XP_016882951.1:n.2072+1971G>T
XM_017027463.1:c.1708G>T	XP_016882952.1:p.Ala570Ser
XM_017027464.1:c.1708G>T	XP_016882953.1:p.Ala570Ser
XM_017027465.1:c.1708G>T	XP_016882954.1:p.Ala570Ser
XM_017027466.1:c.1708G>T	XP_016882955.1:p.Ala570Ser
XM_017027467.1:c.1708G>T	XP_016882956.1:p.Ala570Ser
NM_001277126.2:c.2125G>T	NP_001264055.1:p.Ala709Ser
NM_144687.4:c.2122G>T MANE Select	NP_653288.1:p.Ala708Ser