Canonical Allele Identifier: CA5092705

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77318505C>T , CM000671.2:g.77318505C>T	GRCh38
NC_000009.11:g.79933421C>T , CM000671.1:g.79933421C>T	GRCh37
NC_000009.10:g.79123241C>T	NCBI36
NG_008931.1:g.146061C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.5227C>T MANE Select	NP_150648.2:p.Pro1743Ser
ENST00000360280.8:c.5227C>T MANE Select	ENSP00000353422.3:p.Pro1743Ser
NM_001018037.1:c.5110C>T	NP_001018047.1:p.Pro1704Ser
NM_001018037.2:c.5110C>T	NP_001018047.1:p.Pro1704Ser
NM_001018038.2:c.5227C>T	NP_001018048.1:p.Pro1743Ser
NM_001018038.3:c.5227C>T	NP_001018048.1:p.Pro1743Ser
NM_015186.3:c.5227C>T	NP_056001.1:p.Pro1743Ser
NM_015186.4:c.5227C>T	NP_056001.1:p.Pro1743Ser
NM_033305.2:c.5227C>T	NP_150648.2:p.Pro1743Ser
ENST00000357409.9:c.5227C>T	ENSP00000349985.5:p.Pro1743Ser
ENST00000360280.7:c.5227C>T	ENSP00000353422.3:p.Pro1743Ser
ENST00000376634.8:c.5227C>T	ENSP00000365821.4:p.Pro1743Ser
ENST00000376636.7:c.5110C>T	ENSP00000365823.3:p.Pro1704Ser
ENST00000423463.6:n.2517C>T
ENST00000493341.1:c.1816C>T	ENSP00000437478.1:n.1816C>T
ENST00000643348.1:c.5227C>T	ENSP00000493592.1:p.Pro1743Ser
ENST00000645632.1:c.5227C>T	ENSP00000496361.1:p.Pro1743Ser
XR_001746259.1:n.5579C>T
XR_001746260.1:n.5579C>T
XR_242579.2:n.5579C>T
XR_242580.3:n.5579C>T
XR_929740.1:n.5579C>T