Canonical Allele Identifier: CA404775147

Gene: IL12RB1

Linked Data

• MyVariant Identifiers: chr19:g.18170795G>C (hg19) ; chr19:g.18059985G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059985G>C , CM000681.2:g.18059985G>C	GRCh38
NC_000019.9:g.18170795G>C , CM000681.1:g.18170795G>C	GRCh37
NC_000019.8:g.18031795G>C	NCBI36
NG_007366.2:g.43965C>G , LRG_72:g.43965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1892C>G MANE Select	ENSP00000472165.2:p.Pro631Arg
ENST00000593993.6:c.1892C>G	ENSP00000472165.2:p.Pro631Arg
ENST00000600835.6:c.1892C>G	ENSP00000470788.1:p.Pro631Arg
NM_001290023.1:c.1892C>G	NP_001276952.1:p.Pro631Arg
NM_001290024.1:c.2012C>G	NP_001276953.1:p.Pro671Arg
NM_005535.2:c.1892C>G	NP_005526.1:p.Pro631Arg
XM_006722741.2:c.2012C>G	XP_006722804.2:p.Pro671Arg
XM_011527966.1:c.2045C>G	XP_011526268.1:p.Pro682Arg
XM_011527967.1:c.2033C>G	XP_011526269.1:p.Pro678Arg
XM_011527968.1:c.2024C>G	XP_011526270.1:p.Pro675Arg
XM_011527969.1:c.2012C>G	XP_011526271.1:p.Pro671Arg
XM_011527970.1:c.2045C>G	XP_011526272.1:p.Pro682Arg
XM_011527971.1:c.2045C>G	XP_011526273.1:p.Pro682Arg
XM_011527972.1:c.2045C>G	XP_011526274.1:p.Pro682Arg
XM_011527973.1:c.1925C>G	XP_011526275.1:p.Pro642Arg
XM_011527974.1:c.1913C>G	XP_011526276.1:p.Pro638Arg
XM_011527975.1:c.2012C>G	XP_011526277.1:p.Pro671Arg
XM_006722741.3:c.2012C>G	XP_006722804.2:p.Pro671Arg
XM_011527966.2:c.2045C>G	XP_011526268.1:p.Pro682Arg
XM_011527967.2:c.2033C>G	XP_011526269.1:p.Pro678Arg
XM_011527968.3:c.2024C>G	XP_011526270.1:p.Pro675Arg
XM_011527969.2:c.2012C>G	XP_011526271.1:p.Pro671Arg
XM_011527970.2:c.2045C>G	XP_011526272.1:p.Pro682Arg
XM_011527971.3:c.2045C>G	XP_011526273.1:p.Pro682Arg
XM_011527972.3:c.2045C>G	XP_011526274.1:p.Pro682Arg
XM_011527973.2:c.1925C>G	XP_011526275.1:p.Pro642Arg
XM_011527974.2:c.1913C>G	XP_011526276.1:p.Pro638Arg
XM_011527975.2:c.2012C>G	XP_011526277.1:p.Pro671Arg
XM_017026762.1:c.1310C>G	XP_016882251.1:p.Pro437Arg
NM_001290023.2:c.1892C>G	NP_001276952.1:p.Pro631Arg
NM_005535.3:c.1892C>G MANE Select	NP_005526.1:p.Pro631Arg