Canonical Allele Identifier: CA379519700

Gene: HPS5

Linked Data

• ClinVar Variation Id: 2824733
• ClinVar RCV Id: RCV003678333
• MyVariant Identifiers: chr11:g.18309231A>C (hg19) ; chr11:g.18287684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287684A>C , CM000673.2:g.18287684A>C	GRCh38
NC_000011.9:g.18309231A>C , CM000673.1:g.18309231A>C	GRCh37
NC_000011.8:g.18265807A>C	NCBI36
NG_008877.1:g.39491T>G , LRG_586:g.39491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2568T>G MANE Select	ENSP00000265967.5:p.Tyr856Ter
ENST00000349215.7:c.2568T>G	ENSP00000265967.5:p.Tyr856Ter
ENST00000352460.7:n.959T>G
ENST00000396253.7:c.2226T>G	ENSP00000379552.3:p.Tyr742Ter
ENST00000438420.6:c.2226T>G	ENSP00000399590.2:p.Tyr742Ter
ENST00000544218.5:c.126T>G	ENSP00000441781.1:p.Tyr42Ter
ENST00000545561.1:n.629T>G
NM_007216.3:c.2226T>G	NP_009147.3:p.Tyr742Ter
NM_181507.1:c.2568T>G , LRG_586t1:c.2568T>G	NP_852608.1:p.Tyr856Ter
NM_181508.1:c.2226T>G	NP_852609.1:p.Tyr742Ter
XM_011519862.1:c.2568T>G	XP_011518164.1:p.Tyr856Ter
XM_011519863.1:c.2568T>G	XP_011518165.1:p.Tyr856Ter
XM_011519864.1:c.2568T>G	XP_011518166.1:p.Tyr856Ter
XM_011519865.1:c.2457T>G	XP_011518167.1:p.Tyr819Ter
XM_011519866.1:c.2226T>G	XP_011518168.1:p.Tyr742Ter
XM_011519867.1:c.2226T>G	XP_011518169.1:p.Tyr742Ter
XM_011519868.1:c.2226T>G	XP_011518170.1:p.Tyr742Ter
XM_011519869.1:c.2568T>G	XP_011518171.1:p.Tyr856Ter
XM_011519870.1:c.*52T>G	XP_011518172.1:n.*52T>G
XM_011519871.1:c.*52T>G	XP_011518173.1:n.*52T>G
XM_011519868.3:c.2226T>G	XP_011518170.1:p.Tyr742Ter
XM_017017149.1:c.2568T>G	XP_016872638.1:p.Tyr856Ter
XM_017017150.1:c.2568T>G	XP_016872639.1:p.Tyr856Ter
XM_017017151.2:c.2457T>G	XP_016872640.1:p.Tyr819Ter
XM_017017152.1:c.2457T>G	XP_016872641.1:p.Tyr819Ter
XM_017017153.2:c.2457T>G	XP_016872642.1:p.Tyr819Ter
XM_017017154.1:c.2226T>G	XP_016872643.1:p.Tyr742Ter
XR_001747750.1:n.2837T>G
XR_001747751.1:n.2837T>G
XR_001747752.1:n.2593T>G
XR_001747753.1:n.2710T>G
XR_001747754.2:n.2234T>G
XR_001747755.2:n.2156T>G
XR_001747756.2:n.2169T>G
NM_007216.4:c.2226T>G	NP_009147.3:p.Tyr742Ter
NM_181507.2:c.2568T>G MANE Select	NP_852608.1:p.Tyr856Ter