Canonical Allele Identifier: CA9638811
Community Standard Title: NM_144687.4(NLRP12):c.2985G>A (p.Gly995=)
Gene: NLRP12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53795972C>T , CM000681.2:g.53795972C>T GRCh38
NC_000019.9:g.54299226C>T , CM000681.1:g.54299226C>T GRCh37
NC_000019.8:g.58991038C>T NCBI36
NG_008651.1:g.33423G>A
NG_008651.2:g.33423G>A

Transcript Alleles

HGVS Amino-acid Change
NM_144687.4:c.2985G>A MANE Select NP_653288.1:p.Gly995=
ENST00000324134.11:c.2985G>A MANE Select ENSP00000319377.6:p.Gly995=
NM_001277126.1:c.2988G>A NP_001264055.1:p.Gly996=
NM_001277126.2:c.2988G>A NP_001264055.1:p.Gly996=
NM_001277129.1:c.2814G>A NP_001264058.1:p.Gly938=
NM_144687.3:c.2985G>A NP_653288.1:p.Gly995=
ENST00000324134.10:c.2985G>A ENSP00000319377.6:p.Gly995=
ENST00000345770.9:c.2934-1836G>A ENSP00000341428.5:n.2934-1836G>A
ENST00000391772.1:c.2592-1836G>A ENSP00000375652.1:n.2592-1836G>A
ENST00000391773.5:c.2988G>A ENSP00000375653.1:p.Gly996=
ENST00000391773.6:c.2988G>A ENSP00000375653.1:p.Gly996=
ENST00000391773.7:c.2988G>A ENSP00000375653.1:p.Gly996=
ENST00000391775.7:c.2814G>A ENSP00000375655.3:p.Gly938=
ENST00000492915.1:n.1972G>A
XM_011527478.1:c.2820G>A XP_011525780.1:p.Gly940=
XM_011527479.1:c.2817G>A XP_011525781.1:p.Gly939=
XM_011527480.1:c.2817G>A XP_011525782.1:p.Gly939=
XM_011527482.1:c.2646G>A XP_011525784.1:p.Gly882=
XM_011527483.1:c.2472G>A XP_011525785.1:p.Gly824=
XM_017027460.1:c.2985G>A XP_016882949.1:p.Gly995=
XM_017027461.1:c.2931-1836G>A XP_016882950.1:n.2931-1836G>A
XM_017027462.1:c.2814G>A XP_016882951.1:p.Gly938=
XM_017027463.1:c.2571G>A XP_016882952.1:p.Gly857=
XM_017027464.1:c.2571G>A XP_016882953.1:p.Gly857=
XM_017027465.1:c.2571G>A XP_016882954.1:p.Gly857=
XM_017027466.1:c.2571G>A XP_016882955.1:p.Gly857=
XM_017027467.1:c.2571G>A XP_016882956.1:p.Gly857=