Canonical Allele Identifier: CA477582253

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880640-G-A
• MyVariant Identifiers: chr11:g.130750535G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880640G>A , CM000673.2:g.130880640G>A	GRCh38
NC_000011.9:g.130750535G>A , CM000673.1:g.130750535G>A	GRCh37
NC_000011.8:g.130255745G>A	NCBI36
NG_053190.1:g.40849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2740C>T MANE Select	ENSP00000265909.4:p.Leu914=
ENST00000265909.8:c.2740C>T	ENSP00000265909.4:p.Leu914=
ENST00000426933.6:c.244C>T	ENSP00000413345.2:p.Leu82=
ENST00000526579.5:n.178-929C>T
ENST00000527116.5:n.502C>T
ENST00000528555.5:c.880C>T	ENSP00000435122.1:p.Leu294=
ENST00000530330.1:n.476C>T
ENST00000530356.5:c.880C>T	ENSP00000432307.1:p.Leu294=
ENST00000533318.5:n.1100C>T
ENST00000534726.5:c.460C>T	ENSP00000433699.1:p.Leu154=
NM_001301089.1:c.880C>T	NP_001288018.1:p.Leu294=
NM_014758.2:c.2740C>T	NP_055573.2:p.Leu914=
XM_005271546.3:c.2574-929C>T	XP_005271603.1:n.2574-929C>T
XM_011542819.1:c.2986C>T	XP_011541121.1:p.Leu996=
XM_011542820.1:c.2974C>T	XP_011541122.1:p.Leu992=
XM_011542821.1:c.2866C>T	XP_011541123.1:p.Leu956=
XM_011542824.1:c.2104C>T	XP_011541126.1:p.Leu702=
XM_011542825.1:c.1261C>T	XP_011541127.1:p.Leu421=
XM_011542826.1:c.1126C>T	XP_011541128.1:p.Leu376=
XM_011542827.1:c.1006C>T	XP_011541129.1:p.Leu336=
NM_001347918.1:c.2620C>T	NP_001334847.1:p.Leu874=
NM_001347919.1:c.2574-929C>T	NP_001334848.1:n.2574-929C>T
NM_001347922.1:c.1069C>T	NP_001334851.1:p.Leu357=
NM_001347923.1:c.1015C>T	NP_001334852.1:p.Leu339=
NM_001347924.1:c.760C>T	NP_001334853.1:p.Leu254=
NM_001347925.1:c.706C>T	NP_001334854.1:p.Leu236=
NM_001347926.1:c.714-929C>T	NP_001334855.1:n.714-929C>T
NM_001347927.1:c.460C>T	NP_001334856.1:p.Leu154=
NR_144939.1:n.3373C>T
XM_011542820.2:c.2974C>T	XP_011541122.1:p.Leu992=
XM_011542821.3:c.2866C>T	XP_011541123.1:p.Leu956=
XM_011542824.2:c.2104C>T	XP_011541126.1:p.Leu702=
XM_011542825.2:c.1261C>T	XP_011541127.1:p.Leu421=
XM_011542826.2:c.1126C>T	XP_011541128.1:p.Leu376=
XM_024448521.1:c.2986C>T	XP_024304289.1:p.Leu996=
XR_001747870.1:n.3811C>T
XR_001747872.1:n.3157C>T
XR_001747873.1:n.3471C>T
NM_001301089.2:c.880C>T	NP_001288018.1:p.Leu294=
NM_001347918.2:c.2620C>T	NP_001334847.2:p.Leu874=
NM_001347919.2:c.2574-929C>T	NP_001334848.2:n.2574-929C>T
NM_001347920.2:c.*21136C>T	NP_001334849.2:n.*21136C>T
NM_001347922.2:c.1069C>T	NP_001334851.2:p.Leu357=
NM_001347923.2:c.1015C>T	NP_001334852.2:p.Leu339=
NM_001347924.2:c.760C>T	NP_001334853.1:p.Leu254=
NM_001347925.2:c.706C>T	NP_001334854.1:p.Leu236=
NM_001347926.2:c.714-929C>T	NP_001334855.1:n.714-929C>T
NM_001347927.2:c.460C>T	NP_001334856.1:p.Leu154=
NM_014758.3:c.2740C>T MANE Select	NP_055573.3:p.Leu914=
NR_144939.2:n.3365C>T