Canonical Allele Identifier: CA5909701

Gene: HPS5

Linked Data

• ClinVar Variation Id: 1444951
• ClinVar RCV Id: RCV001982666
• dbSNP Id: rs753396295
• ExAC: 11:18306916 C / T
• gnomAD v2: 11-18306916-C-T
• gnomAD v3: 11-18285369-C-T
• gnomAD v4: 11-18285369-C-T
• MyVariant Identifiers: chr11:g.18306916C>T (hg19) ; chr11:g.18285369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285369C>T , CM000673.2:g.18285369C>T	GRCh38
NC_000011.9:g.18306916C>T , CM000673.1:g.18306916C>T	GRCh37
NC_000011.8:g.18263492C>T	NCBI36
NG_008877.1:g.41806G>A , LRG_586:g.41806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2928G>A MANE Select	ENSP00000265967.5:p.Met976Ile
ENST00000349215.7:c.2928G>A	ENSP00000265967.5:p.Met976Ile
ENST00000352460.7:n.1228+1222G>A
ENST00000396253.7:c.2586G>A	ENSP00000379552.3:p.Met862Ile
ENST00000438420.6:c.2586G>A	ENSP00000399590.2:p.Met862Ile
ENST00000537258.1:c.249G>A	ENSP00000437437.1:p.Met83Ile
ENST00000545561.1:n.989G>A
NM_007216.3:c.2586G>A	NP_009147.3:p.Met862Ile
NM_181507.1:c.2928G>A , LRG_586t1:c.2928G>A	NP_852608.1:p.Met976Ile
NM_181508.1:c.2586G>A	NP_852609.1:p.Met862Ile
XM_011519862.1:c.2928G>A	XP_011518164.1:p.Met976Ile
XM_011519863.1:c.2928G>A	XP_011518165.1:p.Met976Ile
XM_011519864.1:c.2928G>A	XP_011518166.1:p.Met976Ile
XM_011519865.1:c.2817G>A	XP_011518167.1:p.Met939Ile
XM_011519866.1:c.2586G>A	XP_011518168.1:p.Met862Ile
XM_011519867.1:c.2586G>A	XP_011518169.1:p.Met862Ile
XM_011519868.1:c.2586G>A	XP_011518170.1:p.Met862Ile
XM_011519869.1:c.2928G>A	XP_011518171.1:p.Met976Ile
XM_011519868.3:c.2586G>A	XP_011518170.1:p.Met862Ile
XM_017017149.1:c.2928G>A	XP_016872638.1:p.Met976Ile
XM_017017150.1:c.2928G>A	XP_016872639.1:p.Met976Ile
XM_017017151.2:c.2817G>A	XP_016872640.1:p.Met939Ile
XM_017017152.1:c.2817G>A	XP_016872641.1:p.Met939Ile
XM_017017153.2:c.2817G>A	XP_016872642.1:p.Met939Ile
XM_017017154.1:c.2586G>A	XP_016872643.1:p.Met862Ile
XR_001747750.1:n.3197G>A
XR_001747751.1:n.3197G>A
XR_001747752.1:n.2953G>A
XR_001747753.1:n.3070G>A
XR_001747754.2:n.2594G>A
XR_001747755.2:n.2516G>A
XR_001747756.2:n.2529G>A
NM_007216.4:c.2586G>A	NP_009147.3:p.Met862Ile
NM_181507.2:c.2928G>A MANE Select	NP_852608.1:p.Met976Ile