Canonical Allele Identifier: CA383457782

Gene: SNX19

Linked Data

• ClinVar Variation Id: 2225582
• ClinVar RCV Id: RCV004084803
• gnomAD v4: 11-130880720-C-T
• MyVariant Identifiers: chr11:g.130750615C>T (hg19) ; chr11:g.130880720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880720C>T , CM000673.2:g.130880720C>T	GRCh38
NC_000011.9:g.130750615C>T , CM000673.1:g.130750615C>T	GRCh37
NC_000011.8:g.130255825C>T	NCBI36
NG_053190.1:g.40769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2660G>A MANE Select	ENSP00000265909.4:p.Gly887Asp
ENST00000265909.8:c.2660G>A	ENSP00000265909.4:p.Gly887Asp
ENST00000426933.6:c.164G>A	ENSP00000413345.2:p.Gly55Asp
ENST00000526579.5:n.178-1009G>A
ENST00000527116.5:n.422G>A
ENST00000528555.5:c.800G>A	ENSP00000435122.1:p.Gly267Asp
ENST00000530330.1:n.396G>A
ENST00000530356.5:c.800G>A	ENSP00000432307.1:p.Gly267Asp
ENST00000533318.5:n.1020G>A
ENST00000534726.5:c.380G>A	ENSP00000433699.1:p.Gly127Asp
NM_001301089.1:c.800G>A	NP_001288018.1:p.Gly267Asp
NM_014758.2:c.2660G>A	NP_055573.2:p.Gly887Asp
XM_005271546.3:c.2574-1009G>A	XP_005271603.1:n.2574-1009G>A
XM_011542819.1:c.2906G>A	XP_011541121.1:p.Gly969Asp
XM_011542820.1:c.2894G>A	XP_011541122.1:p.Gly965Asp
XM_011542821.1:c.2786G>A	XP_011541123.1:p.Gly929Asp
XM_011542824.1:c.2024G>A	XP_011541126.1:p.Gly675Asp
XM_011542825.1:c.1181G>A	XP_011541127.1:p.Gly394Asp
XM_011542826.1:c.1046G>A	XP_011541128.1:p.Gly349Asp
XM_011542827.1:c.926G>A	XP_011541129.1:p.Gly309Asp
NM_001347918.1:c.2540G>A	NP_001334847.1:p.Gly847Asp
NM_001347919.1:c.2574-1009G>A	NP_001334848.1:n.2574-1009G>A
NM_001347922.1:c.989G>A	NP_001334851.1:p.Gly330Asp
NM_001347923.1:c.935G>A	NP_001334852.1:p.Gly312Asp
NM_001347924.1:c.680G>A	NP_001334853.1:p.Gly227Asp
NM_001347925.1:c.626G>A	NP_001334854.1:p.Gly209Asp
NM_001347926.1:c.714-1009G>A	NP_001334855.1:n.714-1009G>A
NM_001347927.1:c.380G>A	NP_001334856.1:p.Gly127Asp
NR_144939.1:n.3293G>A
XM_011542820.2:c.2894G>A	XP_011541122.1:p.Gly965Asp
XM_011542821.3:c.2786G>A	XP_011541123.1:p.Gly929Asp
XM_011542824.2:c.2024G>A	XP_011541126.1:p.Gly675Asp
XM_011542825.2:c.1181G>A	XP_011541127.1:p.Gly394Asp
XM_011542826.2:c.1046G>A	XP_011541128.1:p.Gly349Asp
XM_024448521.1:c.2906G>A	XP_024304289.1:p.Gly969Asp
XR_001747870.1:n.3731G>A
XR_001747872.1:n.3077G>A
XR_001747873.1:n.3391G>A
NM_001301089.2:c.800G>A	NP_001288018.1:p.Gly267Asp
NM_001347918.2:c.2540G>A	NP_001334847.2:p.Gly847Asp
NM_001347919.2:c.2574-1009G>A	NP_001334848.2:n.2574-1009G>A
NM_001347920.2:c.*21056G>A	NP_001334849.2:n.*21056G>A
NM_001347922.2:c.989G>A	NP_001334851.2:p.Gly330Asp
NM_001347923.2:c.935G>A	NP_001334852.2:p.Gly312Asp
NM_001347924.2:c.680G>A	NP_001334853.1:p.Gly227Asp
NM_001347925.2:c.626G>A	NP_001334854.1:p.Gly209Asp
NM_001347926.2:c.714-1009G>A	NP_001334855.1:n.714-1009G>A
NM_001347927.2:c.380G>A	NP_001334856.1:p.Gly127Asp
NM_014758.3:c.2660G>A MANE Select	NP_055573.3:p.Gly887Asp
NR_144939.2:n.3285G>A