Canonical Allele Identifier: CA383457948

Gene: SNX19

Linked Data

• dbSNP Id: rs1943612630
• MyVariant Identifiers: chr11:g.130750696A>G (hg19) ; chr11:g.130880801A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880801A>G , CM000673.2:g.130880801A>G	GRCh38
NC_000011.9:g.130750696A>G , CM000673.1:g.130750696A>G	GRCh37
NC_000011.8:g.130255906A>G	NCBI36
NG_053190.1:g.40688T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2579T>C MANE Select	ENSP00000265909.4:p.Leu860Pro
ENST00000265909.8:c.2579T>C	ENSP00000265909.4:p.Leu860Pro
ENST00000426933.6:c.83T>C	ENSP00000413345.2:p.Leu28Pro
ENST00000526579.5:n.178-1090T>C
ENST00000527116.5:n.341T>C
ENST00000528555.5:c.719T>C	ENSP00000435122.1:p.Leu240Pro
ENST00000530330.1:n.315T>C
ENST00000530356.5:c.719T>C	ENSP00000432307.1:p.Leu240Pro
ENST00000533318.5:n.939T>C
ENST00000534726.5:c.299T>C	ENSP00000433699.1:p.Leu100Pro
NM_001301089.1:c.719T>C	NP_001288018.1:p.Leu240Pro
NM_014758.2:c.2579T>C	NP_055573.2:p.Leu860Pro
XM_005271546.3:c.2574-1090T>C	XP_005271603.1:n.2574-1090T>C
XM_011542819.1:c.2825T>C	XP_011541121.1:p.Leu942Pro
XM_011542820.1:c.2813T>C	XP_011541122.1:p.Leu938Pro
XM_011542821.1:c.2705T>C	XP_011541123.1:p.Leu902Pro
XM_011542824.1:c.1943T>C	XP_011541126.1:p.Leu648Pro
XM_011542825.1:c.1100T>C	XP_011541127.1:p.Leu367Pro
XM_011542826.1:c.965T>C	XP_011541128.1:p.Leu322Pro
XM_011542827.1:c.845T>C	XP_011541129.1:p.Leu282Pro
NM_001347918.1:c.2459T>C	NP_001334847.1:p.Leu820Pro
NM_001347919.1:c.2574-1090T>C	NP_001334848.1:n.2574-1090T>C
NM_001347922.1:c.908T>C	NP_001334851.1:p.Leu303Pro
NM_001347923.1:c.854T>C	NP_001334852.1:p.Leu285Pro
NM_001347924.1:c.599T>C	NP_001334853.1:p.Leu200Pro
NM_001347925.1:c.545T>C	NP_001334854.1:p.Leu182Pro
NM_001347926.1:c.714-1090T>C	NP_001334855.1:n.714-1090T>C
NM_001347927.1:c.299T>C	NP_001334856.1:p.Leu100Pro
NR_144939.1:n.3212T>C
XM_011542820.2:c.2813T>C	XP_011541122.1:p.Leu938Pro
XM_011542821.3:c.2705T>C	XP_011541123.1:p.Leu902Pro
XM_011542824.2:c.1943T>C	XP_011541126.1:p.Leu648Pro
XM_011542825.2:c.1100T>C	XP_011541127.1:p.Leu367Pro
XM_011542826.2:c.965T>C	XP_011541128.1:p.Leu322Pro
XM_024448521.1:c.2825T>C	XP_024304289.1:p.Leu942Pro
XR_001747870.1:n.3650T>C
XR_001747872.1:n.2996T>C
XR_001747873.1:n.3310T>C
NM_001301089.2:c.719T>C	NP_001288018.1:p.Leu240Pro
NM_001347918.2:c.2459T>C	NP_001334847.2:p.Leu820Pro
NM_001347919.2:c.2574-1090T>C	NP_001334848.2:n.2574-1090T>C
NM_001347920.2:c.*20975T>C	NP_001334849.2:n.*20975T>C
NM_001347922.2:c.908T>C	NP_001334851.2:p.Leu303Pro
NM_001347923.2:c.854T>C	NP_001334852.2:p.Leu285Pro
NM_001347924.2:c.599T>C	NP_001334853.1:p.Leu200Pro
NM_001347925.2:c.545T>C	NP_001334854.1:p.Leu182Pro
NM_001347926.2:c.714-1090T>C	NP_001334855.1:n.714-1090T>C
NM_001347927.2:c.299T>C	NP_001334856.1:p.Leu100Pro
NM_014758.3:c.2579T>C MANE Select	NP_055573.3:p.Leu860Pro
NR_144939.2:n.3204T>C