Canonical Allele Identifier: CA9638794

Gene: NLRP12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53795915A>G , CM000681.2:g.53795915A>G	GRCh38
NC_000019.9:g.54299169A>G , CM000681.1:g.54299169A>G	GRCh37
NC_000019.8:g.58990981A>G	NCBI36
NG_008651.1:g.33480T>C
NG_008651.2:g.33480T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_144687.4:c.3042T>C MANE Select	NP_653288.1:p.Gly1014=
ENST00000324134.11:c.3042T>C MANE Select	ENSP00000319377.6:p.Gly1014=
NM_001277126.1:c.3045T>C	NP_001264055.1:p.Gly1015=
NM_001277126.2:c.3045T>C	NP_001264055.1:p.Gly1015=
NM_001277129.1:c.2871T>C	NP_001264058.1:p.Gly957=
NM_144687.3:c.3042T>C	NP_653288.1:p.Gly1014=
ENST00000324134.10:c.3042T>C	ENSP00000319377.6:p.Gly1014=
ENST00000345770.9:c.2934-1779T>C	ENSP00000341428.5:n.2934-1779T>C
ENST00000391772.1:c.2592-1779T>C	ENSP00000375652.1:n.2592-1779T>C
ENST00000391773.5:c.3045T>C	ENSP00000375653.1:p.Gly1015=
ENST00000391773.6:c.3045T>C	ENSP00000375653.1:p.Gly1015=
ENST00000391773.7:c.3045T>C	ENSP00000375653.1:p.Gly1015=
ENST00000391775.7:c.2871T>C	ENSP00000375655.3:p.Gly957=
ENST00000492915.1:n.2029T>C
XM_011527478.1:c.2877T>C	XP_011525780.1:p.Gly959=
XM_011527479.1:c.2874T>C	XP_011525781.1:p.Gly958=
XM_011527480.1:c.2874T>C	XP_011525782.1:p.Gly958=
XM_011527482.1:c.2703T>C	XP_011525784.1:p.Gly901=
XM_011527483.1:c.2529T>C	XP_011525785.1:p.Gly843=
XM_017027460.1:c.3042T>C	XP_016882949.1:p.Gly1014=
XM_017027461.1:c.2931-1779T>C	XP_016882950.1:n.2931-1779T>C
XM_017027462.1:c.2871T>C	XP_016882951.1:p.Gly957=
XM_017027463.1:c.2628T>C	XP_016882952.1:p.Gly876=
XM_017027464.1:c.2628T>C	XP_016882953.1:p.Gly876=
XM_017027465.1:c.2628T>C	XP_016882954.1:p.Gly876=
XM_017027466.1:c.2628T>C	XP_016882955.1:p.Gly876=
XM_017027467.1:c.2628T>C	XP_016882956.1:p.Gly876=