Canonical Allele Identifier: CA383457661

Gene: SNX19

Linked Data

• dbSNP Id: rs1307662567
• gnomAD v4: 11-130880661-C-T
• MyVariant Identifiers: chr11:g.130750556C>T (hg19) ; chr11:g.130880661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880661C>T , CM000673.2:g.130880661C>T	GRCh38
NC_000011.9:g.130750556C>T , CM000673.1:g.130750556C>T	GRCh37
NC_000011.8:g.130255766C>T	NCBI36
NG_053190.1:g.40828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2719G>A MANE Select	ENSP00000265909.4:p.Glu907Lys
ENST00000265909.8:c.2719G>A	ENSP00000265909.4:p.Glu907Lys
ENST00000426933.6:c.223G>A	ENSP00000413345.2:p.Glu75Lys
ENST00000526579.5:n.178-950G>A
ENST00000527116.5:n.481G>A
ENST00000528555.5:c.859G>A	ENSP00000435122.1:p.Glu287Lys
ENST00000530330.1:n.455G>A
ENST00000530356.5:c.859G>A	ENSP00000432307.1:p.Glu287Lys
ENST00000533318.5:n.1079G>A
ENST00000534726.5:c.439G>A	ENSP00000433699.1:p.Glu147Lys
NM_001301089.1:c.859G>A	NP_001288018.1:p.Glu287Lys
NM_014758.2:c.2719G>A	NP_055573.2:p.Glu907Lys
XM_005271546.3:c.2574-950G>A	XP_005271603.1:n.2574-950G>A
XM_011542819.1:c.2965G>A	XP_011541121.1:p.Glu989Lys
XM_011542820.1:c.2953G>A	XP_011541122.1:p.Glu985Lys
XM_011542821.1:c.2845G>A	XP_011541123.1:p.Glu949Lys
XM_011542824.1:c.2083G>A	XP_011541126.1:p.Glu695Lys
XM_011542825.1:c.1240G>A	XP_011541127.1:p.Glu414Lys
XM_011542826.1:c.1105G>A	XP_011541128.1:p.Glu369Lys
XM_011542827.1:c.985G>A	XP_011541129.1:p.Glu329Lys
NM_001347918.1:c.2599G>A	NP_001334847.1:p.Glu867Lys
NM_001347919.1:c.2574-950G>A	NP_001334848.1:n.2574-950G>A
NM_001347922.1:c.1048G>A	NP_001334851.1:p.Glu350Lys
NM_001347923.1:c.994G>A	NP_001334852.1:p.Glu332Lys
NM_001347924.1:c.739G>A	NP_001334853.1:p.Glu247Lys
NM_001347925.1:c.685G>A	NP_001334854.1:p.Glu229Lys
NM_001347926.1:c.714-950G>A	NP_001334855.1:n.714-950G>A
NM_001347927.1:c.439G>A	NP_001334856.1:p.Glu147Lys
NR_144939.1:n.3352G>A
XM_011542820.2:c.2953G>A	XP_011541122.1:p.Glu985Lys
XM_011542821.3:c.2845G>A	XP_011541123.1:p.Glu949Lys
XM_011542824.2:c.2083G>A	XP_011541126.1:p.Glu695Lys
XM_011542825.2:c.1240G>A	XP_011541127.1:p.Glu414Lys
XM_011542826.2:c.1105G>A	XP_011541128.1:p.Glu369Lys
XM_024448521.1:c.2965G>A	XP_024304289.1:p.Glu989Lys
XR_001747870.1:n.3790G>A
XR_001747872.1:n.3136G>A
XR_001747873.1:n.3450G>A
NM_001301089.2:c.859G>A	NP_001288018.1:p.Glu287Lys
NM_001347918.2:c.2599G>A	NP_001334847.2:p.Glu867Lys
NM_001347919.2:c.2574-950G>A	NP_001334848.2:n.2574-950G>A
NM_001347920.2:c.*21115G>A	NP_001334849.2:n.*21115G>A
NM_001347922.2:c.1048G>A	NP_001334851.2:p.Glu350Lys
NM_001347923.2:c.994G>A	NP_001334852.2:p.Glu332Lys
NM_001347924.2:c.739G>A	NP_001334853.1:p.Glu247Lys
NM_001347925.2:c.685G>A	NP_001334854.1:p.Glu229Lys
NM_001347926.2:c.714-950G>A	NP_001334855.1:n.714-950G>A
NM_001347927.2:c.439G>A	NP_001334856.1:p.Glu147Lys
NM_014758.3:c.2719G>A MANE Select	NP_055573.3:p.Glu907Lys
NR_144939.2:n.3344G>A