Canonical Allele Identifier: CA6366587

Gene: SNX19

Linked Data

• dbSNP Id: rs372192550
• ExAC: 11:130750635 A / G
• gnomAD v2: 11-130750635-A-G
• gnomAD v3: 11-130880740-A-G
• gnomAD v4: 11-130880740-A-G
• MyVariant Identifiers: chr11:g.130750635A>G (hg19) ; chr11:g.130880740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880740A>G , CM000673.2:g.130880740A>G	GRCh38
NC_000011.9:g.130750635A>G , CM000673.1:g.130750635A>G	GRCh37
NC_000011.8:g.130255845A>G	NCBI36
NG_053190.1:g.40749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2640T>C MANE Select	ENSP00000265909.4:p.Leu880=
ENST00000265909.8:c.2640T>C	ENSP00000265909.4:p.Leu880=
ENST00000426933.6:c.144T>C	ENSP00000413345.2:p.Leu48=
ENST00000526579.5:n.178-1029T>C
ENST00000527116.5:n.402T>C
ENST00000528555.5:c.780T>C	ENSP00000435122.1:p.Leu260=
ENST00000530330.1:n.376T>C
ENST00000530356.5:c.780T>C	ENSP00000432307.1:p.Leu260=
ENST00000533318.5:n.1000T>C
ENST00000534726.5:c.360T>C	ENSP00000433699.1:p.Leu120=
NM_001301089.1:c.780T>C	NP_001288018.1:p.Leu260=
NM_014758.2:c.2640T>C	NP_055573.2:p.Leu880=
XM_005271546.3:c.2574-1029T>C	XP_005271603.1:n.2574-1029T>C
XM_011542819.1:c.2886T>C	XP_011541121.1:p.Leu962=
XM_011542820.1:c.2874T>C	XP_011541122.1:p.Leu958=
XM_011542821.1:c.2766T>C	XP_011541123.1:p.Leu922=
XM_011542824.1:c.2004T>C	XP_011541126.1:p.Leu668=
XM_011542825.1:c.1161T>C	XP_011541127.1:p.Leu387=
XM_011542826.1:c.1026T>C	XP_011541128.1:p.Leu342=
XM_011542827.1:c.906T>C	XP_011541129.1:p.Leu302=
NM_001347918.1:c.2520T>C	NP_001334847.1:p.Leu840=
NM_001347919.1:c.2574-1029T>C	NP_001334848.1:n.2574-1029T>C
NM_001347922.1:c.969T>C	NP_001334851.1:p.Leu323=
NM_001347923.1:c.915T>C	NP_001334852.1:p.Leu305=
NM_001347924.1:c.660T>C	NP_001334853.1:p.Leu220=
NM_001347925.1:c.606T>C	NP_001334854.1:p.Leu202=
NM_001347926.1:c.714-1029T>C	NP_001334855.1:n.714-1029T>C
NM_001347927.1:c.360T>C	NP_001334856.1:p.Leu120=
NR_144939.1:n.3273T>C
XM_011542820.2:c.2874T>C	XP_011541122.1:p.Leu958=
XM_011542821.3:c.2766T>C	XP_011541123.1:p.Leu922=
XM_011542824.2:c.2004T>C	XP_011541126.1:p.Leu668=
XM_011542825.2:c.1161T>C	XP_011541127.1:p.Leu387=
XM_011542826.2:c.1026T>C	XP_011541128.1:p.Leu342=
XM_024448521.1:c.2886T>C	XP_024304289.1:p.Leu962=
XR_001747870.1:n.3711T>C
XR_001747872.1:n.3057T>C
XR_001747873.1:n.3371T>C
NM_001301089.2:c.780T>C	NP_001288018.1:p.Leu260=
NM_001347918.2:c.2520T>C	NP_001334847.2:p.Leu840=
NM_001347919.2:c.2574-1029T>C	NP_001334848.2:n.2574-1029T>C
NM_001347920.2:c.*21036T>C	NP_001334849.2:n.*21036T>C
NM_001347922.2:c.969T>C	NP_001334851.2:p.Leu323=
NM_001347923.2:c.915T>C	NP_001334852.2:p.Leu305=
NM_001347924.2:c.660T>C	NP_001334853.1:p.Leu220=
NM_001347925.2:c.606T>C	NP_001334854.1:p.Leu202=
NM_001347926.2:c.714-1029T>C	NP_001334855.1:n.714-1029T>C
NM_001347927.2:c.360T>C	NP_001334856.1:p.Leu120=
NM_014758.3:c.2640T>C MANE Select	NP_055573.3:p.Leu880=
NR_144939.2:n.3265T>C