Canonical Allele Identifier: CA383457758

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880709-G-A
• MyVariant Identifiers: chr11:g.130750604G>A (hg19) ; chr11:g.130880709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880709G>A , CM000673.2:g.130880709G>A	GRCh38
NC_000011.9:g.130750604G>A , CM000673.1:g.130750604G>A	GRCh37
NC_000011.8:g.130255814G>A	NCBI36
NG_053190.1:g.40780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2671C>T MANE Select	ENSP00000265909.4:p.Pro891Ser
ENST00000265909.8:c.2671C>T	ENSP00000265909.4:p.Pro891Ser
ENST00000426933.6:c.175C>T	ENSP00000413345.2:p.Pro59Ser
ENST00000526579.5:n.178-998C>T
ENST00000527116.5:n.433C>T
ENST00000528555.5:c.811C>T	ENSP00000435122.1:p.Pro271Ser
ENST00000530330.1:n.407C>T
ENST00000530356.5:c.811C>T	ENSP00000432307.1:p.Pro271Ser
ENST00000533318.5:n.1031C>T
ENST00000534726.5:c.391C>T	ENSP00000433699.1:p.Pro131Ser
NM_001301089.1:c.811C>T	NP_001288018.1:p.Pro271Ser
NM_014758.2:c.2671C>T	NP_055573.2:p.Pro891Ser
XM_005271546.3:c.2574-998C>T	XP_005271603.1:n.2574-998C>T
XM_011542819.1:c.2917C>T	XP_011541121.1:p.Pro973Ser
XM_011542820.1:c.2905C>T	XP_011541122.1:p.Pro969Ser
XM_011542821.1:c.2797C>T	XP_011541123.1:p.Pro933Ser
XM_011542824.1:c.2035C>T	XP_011541126.1:p.Pro679Ser
XM_011542825.1:c.1192C>T	XP_011541127.1:p.Pro398Ser
XM_011542826.1:c.1057C>T	XP_011541128.1:p.Pro353Ser
XM_011542827.1:c.937C>T	XP_011541129.1:p.Pro313Ser
NM_001347918.1:c.2551C>T	NP_001334847.1:p.Pro851Ser
NM_001347919.1:c.2574-998C>T	NP_001334848.1:n.2574-998C>T
NM_001347922.1:c.1000C>T	NP_001334851.1:p.Pro334Ser
NM_001347923.1:c.946C>T	NP_001334852.1:p.Pro316Ser
NM_001347924.1:c.691C>T	NP_001334853.1:p.Pro231Ser
NM_001347925.1:c.637C>T	NP_001334854.1:p.Pro213Ser
NM_001347926.1:c.714-998C>T	NP_001334855.1:n.714-998C>T
NM_001347927.1:c.391C>T	NP_001334856.1:p.Pro131Ser
NR_144939.1:n.3304C>T
XM_011542820.2:c.2905C>T	XP_011541122.1:p.Pro969Ser
XM_011542821.3:c.2797C>T	XP_011541123.1:p.Pro933Ser
XM_011542824.2:c.2035C>T	XP_011541126.1:p.Pro679Ser
XM_011542825.2:c.1192C>T	XP_011541127.1:p.Pro398Ser
XM_011542826.2:c.1057C>T	XP_011541128.1:p.Pro353Ser
XM_024448521.1:c.2917C>T	XP_024304289.1:p.Pro973Ser
XR_001747870.1:n.3742C>T
XR_001747872.1:n.3088C>T
XR_001747873.1:n.3402C>T
NM_001301089.2:c.811C>T	NP_001288018.1:p.Pro271Ser
NM_001347918.2:c.2551C>T	NP_001334847.2:p.Pro851Ser
NM_001347919.2:c.2574-998C>T	NP_001334848.2:n.2574-998C>T
NM_001347920.2:c.*21067C>T	NP_001334849.2:n.*21067C>T
NM_001347922.2:c.1000C>T	NP_001334851.2:p.Pro334Ser
NM_001347923.2:c.946C>T	NP_001334852.2:p.Pro316Ser
NM_001347924.2:c.691C>T	NP_001334853.1:p.Pro231Ser
NM_001347925.2:c.637C>T	NP_001334854.1:p.Pro213Ser
NM_001347926.2:c.714-998C>T	NP_001334855.1:n.714-998C>T
NM_001347927.2:c.391C>T	NP_001334856.1:p.Pro131Ser
NM_014758.3:c.2671C>T MANE Select	NP_055573.3:p.Pro891Ser
NR_144939.2:n.3296C>T