Canonical Allele Identifier: CA383457707

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880682-G-A
• MyVariant Identifiers: chr11:g.130750577G>A (hg19) ; chr11:g.130880682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880682G>A , CM000673.2:g.130880682G>A	GRCh38
NC_000011.9:g.130750577G>A , CM000673.1:g.130750577G>A	GRCh37
NC_000011.8:g.130255787G>A	NCBI36
NG_053190.1:g.40807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2698C>T MANE Select	ENSP00000265909.4:p.Gln900Ter
ENST00000265909.8:c.2698C>T	ENSP00000265909.4:p.Gln900Ter
ENST00000426933.6:c.202C>T	ENSP00000413345.2:p.Gln68Ter
ENST00000526579.5:n.178-971C>T
ENST00000527116.5:n.460C>T
ENST00000528555.5:c.838C>T	ENSP00000435122.1:p.Gln280Ter
ENST00000530330.1:n.434C>T
ENST00000530356.5:c.838C>T	ENSP00000432307.1:p.Gln280Ter
ENST00000533318.5:n.1058C>T
ENST00000534726.5:c.418C>T	ENSP00000433699.1:p.Gln140Ter
NM_001301089.1:c.838C>T	NP_001288018.1:p.Gln280Ter
NM_014758.2:c.2698C>T	NP_055573.2:p.Gln900Ter
XM_005271546.3:c.2574-971C>T	XP_005271603.1:n.2574-971C>T
XM_011542819.1:c.2944C>T	XP_011541121.1:p.Gln982Ter
XM_011542820.1:c.2932C>T	XP_011541122.1:p.Gln978Ter
XM_011542821.1:c.2824C>T	XP_011541123.1:p.Gln942Ter
XM_011542824.1:c.2062C>T	XP_011541126.1:p.Gln688Ter
XM_011542825.1:c.1219C>T	XP_011541127.1:p.Gln407Ter
XM_011542826.1:c.1084C>T	XP_011541128.1:p.Gln362Ter
XM_011542827.1:c.964C>T	XP_011541129.1:p.Gln322Ter
NM_001347918.1:c.2578C>T	NP_001334847.1:p.Gln860Ter
NM_001347919.1:c.2574-971C>T	NP_001334848.1:n.2574-971C>T
NM_001347922.1:c.1027C>T	NP_001334851.1:p.Gln343Ter
NM_001347923.1:c.973C>T	NP_001334852.1:p.Gln325Ter
NM_001347924.1:c.718C>T	NP_001334853.1:p.Gln240Ter
NM_001347925.1:c.664C>T	NP_001334854.1:p.Gln222Ter
NM_001347926.1:c.714-971C>T	NP_001334855.1:n.714-971C>T
NM_001347927.1:c.418C>T	NP_001334856.1:p.Gln140Ter
NR_144939.1:n.3331C>T
XM_011542820.2:c.2932C>T	XP_011541122.1:p.Gln978Ter
XM_011542821.3:c.2824C>T	XP_011541123.1:p.Gln942Ter
XM_011542824.2:c.2062C>T	XP_011541126.1:p.Gln688Ter
XM_011542825.2:c.1219C>T	XP_011541127.1:p.Gln407Ter
XM_011542826.2:c.1084C>T	XP_011541128.1:p.Gln362Ter
XM_024448521.1:c.2944C>T	XP_024304289.1:p.Gln982Ter
XR_001747870.1:n.3769C>T
XR_001747872.1:n.3115C>T
XR_001747873.1:n.3429C>T
NM_001301089.2:c.838C>T	NP_001288018.1:p.Gln280Ter
NM_001347918.2:c.2578C>T	NP_001334847.2:p.Gln860Ter
NM_001347919.2:c.2574-971C>T	NP_001334848.2:n.2574-971C>T
NM_001347920.2:c.*21094C>T	NP_001334849.2:n.*21094C>T
NM_001347922.2:c.1027C>T	NP_001334851.2:p.Gln343Ter
NM_001347923.2:c.973C>T	NP_001334852.2:p.Gln325Ter
NM_001347924.2:c.718C>T	NP_001334853.1:p.Gln240Ter
NM_001347925.2:c.664C>T	NP_001334854.1:p.Gln222Ter
NM_001347926.2:c.714-971C>T	NP_001334855.1:n.714-971C>T
NM_001347927.2:c.418C>T	NP_001334856.1:p.Gln140Ter
NM_014758.3:c.2698C>T MANE Select	NP_055573.3:p.Gln900Ter
NR_144939.2:n.3323C>T