Canonical Allele Identifier: CA383457583

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880628-G-A
• MyVariant Identifiers: chr11:g.130750523G>A (hg19) ; chr11:g.130880628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880628G>A , CM000673.2:g.130880628G>A	GRCh38
NC_000011.9:g.130750523G>A , CM000673.1:g.130750523G>A	GRCh37
NC_000011.8:g.130255733G>A	NCBI36
NG_053190.1:g.40861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2752C>T MANE Select	ENSP00000265909.4:p.Leu918Phe
ENST00000265909.8:c.2752C>T	ENSP00000265909.4:p.Leu918Phe
ENST00000426933.6:c.256C>T	ENSP00000413345.2:p.Leu86Phe
ENST00000526579.5:n.178-917C>T
ENST00000527116.5:n.514C>T
ENST00000528555.5:c.892C>T	ENSP00000435122.1:p.Leu298Phe
ENST00000530330.1:n.488C>T
ENST00000530356.5:c.892C>T	ENSP00000432307.1:p.Leu298Phe
ENST00000533318.5:n.1112C>T
ENST00000534726.5:c.472C>T	ENSP00000433699.1:p.Leu158Phe
NM_001301089.1:c.892C>T	NP_001288018.1:p.Leu298Phe
NM_014758.2:c.2752C>T	NP_055573.2:p.Leu918Phe
XM_005271546.3:c.2574-917C>T	XP_005271603.1:n.2574-917C>T
XM_011542819.1:c.2998C>T	XP_011541121.1:p.Leu1000Phe
XM_011542820.1:c.2986C>T	XP_011541122.1:p.Leu996Phe
XM_011542821.1:c.2878C>T	XP_011541123.1:p.Leu960Phe
XM_011542824.1:c.2116C>T	XP_011541126.1:p.Leu706Phe
XM_011542825.1:c.1273C>T	XP_011541127.1:p.Leu425Phe
XM_011542826.1:c.1138C>T	XP_011541128.1:p.Leu380Phe
XM_011542827.1:c.1018C>T	XP_011541129.1:p.Leu340Phe
NM_001347918.1:c.2632C>T	NP_001334847.1:p.Leu878Phe
NM_001347919.1:c.2574-917C>T	NP_001334848.1:n.2574-917C>T
NM_001347922.1:c.1081C>T	NP_001334851.1:p.Leu361Phe
NM_001347923.1:c.1027C>T	NP_001334852.1:p.Leu343Phe
NM_001347924.1:c.772C>T	NP_001334853.1:p.Leu258Phe
NM_001347925.1:c.718C>T	NP_001334854.1:p.Leu240Phe
NM_001347926.1:c.714-917C>T	NP_001334855.1:n.714-917C>T
NM_001347927.1:c.472C>T	NP_001334856.1:p.Leu158Phe
NR_144939.1:n.3385C>T
XM_011542820.2:c.2986C>T	XP_011541122.1:p.Leu996Phe
XM_011542821.3:c.2878C>T	XP_011541123.1:p.Leu960Phe
XM_011542824.2:c.2116C>T	XP_011541126.1:p.Leu706Phe
XM_011542825.2:c.1273C>T	XP_011541127.1:p.Leu425Phe
XM_011542826.2:c.1138C>T	XP_011541128.1:p.Leu380Phe
XM_024448521.1:c.2998C>T	XP_024304289.1:p.Leu1000Phe
XR_001747870.1:n.3823C>T
XR_001747872.1:n.3169C>T
XR_001747873.1:n.3483C>T
NM_001301089.2:c.892C>T	NP_001288018.1:p.Leu298Phe
NM_001347918.2:c.2632C>T	NP_001334847.2:p.Leu878Phe
NM_001347919.2:c.2574-917C>T	NP_001334848.2:n.2574-917C>T
NM_001347920.2:c.*21148C>T	NP_001334849.2:n.*21148C>T
NM_001347922.2:c.1081C>T	NP_001334851.2:p.Leu361Phe
NM_001347923.2:c.1027C>T	NP_001334852.2:p.Leu343Phe
NM_001347924.2:c.772C>T	NP_001334853.1:p.Leu258Phe
NM_001347925.2:c.718C>T	NP_001334854.1:p.Leu240Phe
NM_001347926.2:c.714-917C>T	NP_001334855.1:n.714-917C>T
NM_001347927.2:c.472C>T	NP_001334856.1:p.Leu158Phe
NM_014758.3:c.2752C>T MANE Select	NP_055573.3:p.Leu918Phe
NR_144939.2:n.3377C>T