Canonical Allele Identifier: CA383457835

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880745-G-T
• MyVariant Identifiers: chr11:g.130750640G>T (hg19) ; chr11:g.130880745G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880745G>T , CM000673.2:g.130880745G>T	GRCh38
NC_000011.9:g.130750640G>T , CM000673.1:g.130750640G>T	GRCh37
NC_000011.8:g.130255850G>T	NCBI36
NG_053190.1:g.40744C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2635C>A MANE Select	ENSP00000265909.4:p.Leu879Ile
ENST00000265909.8:c.2635C>A	ENSP00000265909.4:p.Leu879Ile
ENST00000426933.6:c.139C>A	ENSP00000413345.2:p.Leu47Ile
ENST00000526579.5:n.178-1034C>A
ENST00000527116.5:n.397C>A
ENST00000528555.5:c.775C>A	ENSP00000435122.1:p.Leu259Ile
ENST00000530330.1:n.371C>A
ENST00000530356.5:c.775C>A	ENSP00000432307.1:p.Leu259Ile
ENST00000533318.5:n.995C>A
ENST00000534726.5:c.355C>A	ENSP00000433699.1:p.Leu119Ile
NM_001301089.1:c.775C>A	NP_001288018.1:p.Leu259Ile
NM_014758.2:c.2635C>A	NP_055573.2:p.Leu879Ile
XM_005271546.3:c.2574-1034C>A	XP_005271603.1:n.2574-1034C>A
XM_011542819.1:c.2881C>A	XP_011541121.1:p.Leu961Ile
XM_011542820.1:c.2869C>A	XP_011541122.1:p.Leu957Ile
XM_011542821.1:c.2761C>A	XP_011541123.1:p.Leu921Ile
XM_011542824.1:c.1999C>A	XP_011541126.1:p.Leu667Ile
XM_011542825.1:c.1156C>A	XP_011541127.1:p.Leu386Ile
XM_011542826.1:c.1021C>A	XP_011541128.1:p.Leu341Ile
XM_011542827.1:c.901C>A	XP_011541129.1:p.Leu301Ile
NM_001347918.1:c.2515C>A	NP_001334847.1:p.Leu839Ile
NM_001347919.1:c.2574-1034C>A	NP_001334848.1:n.2574-1034C>A
NM_001347922.1:c.964C>A	NP_001334851.1:p.Leu322Ile
NM_001347923.1:c.910C>A	NP_001334852.1:p.Leu304Ile
NM_001347924.1:c.655C>A	NP_001334853.1:p.Leu219Ile
NM_001347925.1:c.601C>A	NP_001334854.1:p.Leu201Ile
NM_001347926.1:c.714-1034C>A	NP_001334855.1:n.714-1034C>A
NM_001347927.1:c.355C>A	NP_001334856.1:p.Leu119Ile
NR_144939.1:n.3268C>A
XM_011542820.2:c.2869C>A	XP_011541122.1:p.Leu957Ile
XM_011542821.3:c.2761C>A	XP_011541123.1:p.Leu921Ile
XM_011542824.2:c.1999C>A	XP_011541126.1:p.Leu667Ile
XM_011542825.2:c.1156C>A	XP_011541127.1:p.Leu386Ile
XM_011542826.2:c.1021C>A	XP_011541128.1:p.Leu341Ile
XM_024448521.1:c.2881C>A	XP_024304289.1:p.Leu961Ile
XR_001747870.1:n.3706C>A
XR_001747872.1:n.3052C>A
XR_001747873.1:n.3366C>A
NM_001301089.2:c.775C>A	NP_001288018.1:p.Leu259Ile
NM_001347918.2:c.2515C>A	NP_001334847.2:p.Leu839Ile
NM_001347919.2:c.2574-1034C>A	NP_001334848.2:n.2574-1034C>A
NM_001347920.2:c.*21031C>A	NP_001334849.2:n.*21031C>A
NM_001347922.2:c.964C>A	NP_001334851.2:p.Leu322Ile
NM_001347923.2:c.910C>A	NP_001334852.2:p.Leu304Ile
NM_001347924.2:c.655C>A	NP_001334853.1:p.Leu219Ile
NM_001347925.2:c.601C>A	NP_001334854.1:p.Leu201Ile
NM_001347926.2:c.714-1034C>A	NP_001334855.1:n.714-1034C>A
NM_001347927.2:c.355C>A	NP_001334856.1:p.Leu119Ile
NM_014758.3:c.2635C>A MANE Select	NP_055573.3:p.Leu879Ile
NR_144939.2:n.3260C>A