Canonical Allele Identifier: CA407411356

Gene: NLRP12

Linked Data

• MyVariant Identifiers: chr19:g.54310864A>C (hg19) ; chr19:g.53807610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53807610A>C , CM000681.2:g.53807610A>C	GRCh38
NC_000019.9:g.54310864A>C , CM000681.1:g.54310864A>C	GRCh37
NC_000019.8:g.59002676A>C	NCBI36
NG_008651.1:g.21785T>G
NG_008651.2:g.21785T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391773.7:c.2131T>G	ENSP00000375653.1:p.Cys711Gly
ENST00000324134.11:c.2128T>G MANE Select	ENSP00000319377.6:p.Cys710Gly
ENST00000391773.6:c.2131T>G	ENSP00000375653.1:p.Cys711Gly
ENST00000324134.10:c.2128T>G	ENSP00000319377.6:p.Cys710Gly
ENST00000345770.9:c.2131T>G	ENSP00000341428.5:p.Cys711Gly
ENST00000391772.1:c.2131T>G	ENSP00000375652.1:p.Cys711Gly
ENST00000391773.5:c.2131T>G	ENSP00000375653.1:p.Cys711Gly
ENST00000391775.7:c.2128T>G	ENSP00000375655.3:p.Cys710Gly
ENST00000492915.1:n.1096T>G
NM_001277126.1:c.2131T>G	NP_001264055.1:p.Cys711Gly
NM_001277129.1:c.2128T>G	NP_001264058.1:p.Cys710Gly
NM_144687.3:c.2128T>G	NP_653288.1:p.Cys710Gly
XM_011527478.1:c.1963T>G	XP_011525780.1:p.Cys655Gly
XM_011527479.1:c.2131T>G	XP_011525781.1:p.Cys711Gly
XM_011527480.1:c.2131T>G	XP_011525782.1:p.Cys711Gly
XM_011527481.1:c.2131T>G	XP_011525783.1:p.Cys711Gly
XM_011527482.1:c.2131T>G	XP_011525784.1:p.Cys711Gly
XM_011527483.1:c.2072+1977T>G	XP_011525785.1:n.2072+1977T>G
XM_017027460.1:c.2131T>G	XP_016882949.1:p.Cys711Gly
XM_017027461.1:c.2131T>G	XP_016882950.1:p.Cys711Gly
XM_017027462.1:c.2072+1977T>G	XP_016882951.1:n.2072+1977T>G
XM_017027463.1:c.1714T>G	XP_016882952.1:p.Cys572Gly
XM_017027464.1:c.1714T>G	XP_016882953.1:p.Cys572Gly
XM_017027465.1:c.1714T>G	XP_016882954.1:p.Cys572Gly
XM_017027466.1:c.1714T>G	XP_016882955.1:p.Cys572Gly
XM_017027467.1:c.1714T>G	XP_016882956.1:p.Cys572Gly
NM_001277126.2:c.2131T>G	NP_001264055.1:p.Cys711Gly
NM_144687.4:c.2128T>G MANE Select	NP_653288.1:p.Cys710Gly