Canonical Allele Identifier: CA393864115

Gene: VPS33B

Linked Data

• gnomAD v4: 15-91022249-T-A
• MyVariant Identifiers: chr15:g.91565479T>A (hg19) ; chr15:g.91022249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91022249T>A , CM000677.2:g.91022249T>A	GRCh38
NC_000015.9:g.91565479T>A , CM000677.1:g.91565479T>A	GRCh37
NC_000015.8:g.89366483T>A	NCBI36
NG_012162.1:g.5355A>T , LRG_884:g.5355A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1A>T MANE Select	ENSP00000327650.4:p.Met1Leu
ENST00000643536.1:c.1A>T	ENSP00000494429.1:p.Met1Leu
ENST00000647331.1:c.1A>T	ENSP00000493953.1:p.Met1Leu
ENST00000333371.7:c.1A>T	ENSP00000327650.3:p.Met1Leu
ENST00000535906.1:c.1A>T	ENSP00000444053.1:p.Met1Leu
ENST00000556096.6:n.355A>T
ENST00000557358.1:n.348A>T
ENST00000574755.5:c.1A>T	ENSP00000460413.1:p.Met1Leu
NM_001289148.1:c.1A>T	NP_001276077.1:p.Met1Leu
NM_001289149.1:c.-211A>T	NP_001276078.1:n.-211A>T
NM_018668.4:c.1A>T , LRG_884t1:c.1A>T	NP_061138.3:p.Met1Leu
XM_005254884.2:c.1A>T	XP_005254941.1:p.Met1Leu
XM_005254887.1:c.-130A>T	XP_005254944.1:n.-130A>T
XM_005254888.2:c.1A>T	XP_005254945.1:p.Met1Leu
XM_011521448.1:c.-313A>T	XP_011519750.1:n.-313A>T
XM_017022075.2:c.-361A>T	XP_016877564.1:n.-361A>T
XM_017022076.1:c.-218A>T	XP_016877565.1:n.-218A>T
XR_001751213.2:n.337A>T
NM_018668.5:c.1A>T MANE Select	NP_061138.3:p.Met1Leu