Canonical Allele Identifier: CA383457590

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880631-C-G
• MyVariant Identifiers: chr11:g.130750526C>G (hg19) ; chr11:g.130880631C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880631C>G , CM000673.2:g.130880631C>G	GRCh38
NC_000011.9:g.130750526C>G , CM000673.1:g.130750526C>G	GRCh37
NC_000011.8:g.130255736C>G	NCBI36
NG_053190.1:g.40858G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2749G>C MANE Select	ENSP00000265909.4:p.Val917Leu
ENST00000265909.8:c.2749G>C	ENSP00000265909.4:p.Val917Leu
ENST00000426933.6:c.253G>C	ENSP00000413345.2:p.Val85Leu
ENST00000526579.5:n.178-920G>C
ENST00000527116.5:n.511G>C
ENST00000528555.5:c.889G>C	ENSP00000435122.1:p.Val297Leu
ENST00000530330.1:n.485G>C
ENST00000530356.5:c.889G>C	ENSP00000432307.1:p.Val297Leu
ENST00000533318.5:n.1109G>C
ENST00000534726.5:c.469G>C	ENSP00000433699.1:p.Val157Leu
NM_001301089.1:c.889G>C	NP_001288018.1:p.Val297Leu
NM_014758.2:c.2749G>C	NP_055573.2:p.Val917Leu
XM_005271546.3:c.2574-920G>C	XP_005271603.1:n.2574-920G>C
XM_011542819.1:c.2995G>C	XP_011541121.1:p.Val999Leu
XM_011542820.1:c.2983G>C	XP_011541122.1:p.Val995Leu
XM_011542821.1:c.2875G>C	XP_011541123.1:p.Val959Leu
XM_011542824.1:c.2113G>C	XP_011541126.1:p.Val705Leu
XM_011542825.1:c.1270G>C	XP_011541127.1:p.Val424Leu
XM_011542826.1:c.1135G>C	XP_011541128.1:p.Val379Leu
XM_011542827.1:c.1015G>C	XP_011541129.1:p.Val339Leu
NM_001347918.1:c.2629G>C	NP_001334847.1:p.Val877Leu
NM_001347919.1:c.2574-920G>C	NP_001334848.1:n.2574-920G>C
NM_001347922.1:c.1078G>C	NP_001334851.1:p.Val360Leu
NM_001347923.1:c.1024G>C	NP_001334852.1:p.Val342Leu
NM_001347924.1:c.769G>C	NP_001334853.1:p.Val257Leu
NM_001347925.1:c.715G>C	NP_001334854.1:p.Val239Leu
NM_001347926.1:c.714-920G>C	NP_001334855.1:n.714-920G>C
NM_001347927.1:c.469G>C	NP_001334856.1:p.Val157Leu
NR_144939.1:n.3382G>C
XM_011542820.2:c.2983G>C	XP_011541122.1:p.Val995Leu
XM_011542821.3:c.2875G>C	XP_011541123.1:p.Val959Leu
XM_011542824.2:c.2113G>C	XP_011541126.1:p.Val705Leu
XM_011542825.2:c.1270G>C	XP_011541127.1:p.Val424Leu
XM_011542826.2:c.1135G>C	XP_011541128.1:p.Val379Leu
XM_024448521.1:c.2995G>C	XP_024304289.1:p.Val999Leu
XR_001747870.1:n.3820G>C
XR_001747872.1:n.3166G>C
XR_001747873.1:n.3480G>C
NM_001301089.2:c.889G>C	NP_001288018.1:p.Val297Leu
NM_001347918.2:c.2629G>C	NP_001334847.2:p.Val877Leu
NM_001347919.2:c.2574-920G>C	NP_001334848.2:n.2574-920G>C
NM_001347920.2:c.*21145G>C	NP_001334849.2:n.*21145G>C
NM_001347922.2:c.1078G>C	NP_001334851.2:p.Val360Leu
NM_001347923.2:c.1024G>C	NP_001334852.2:p.Val342Leu
NM_001347924.2:c.769G>C	NP_001334853.1:p.Val257Leu
NM_001347925.2:c.715G>C	NP_001334854.1:p.Val239Leu
NM_001347926.2:c.714-920G>C	NP_001334855.1:n.714-920G>C
NM_001347927.2:c.469G>C	NP_001334856.1:p.Val157Leu
NM_014758.3:c.2749G>C MANE Select	NP_055573.3:p.Val917Leu
NR_144939.2:n.3374G>C