Canonical Allele Identifier: CA360999652

Gene: SAR1B

Linked Data

• MyVariant Identifiers: chr5:g.133942720A>T (hg19) ; chr5:g.134607030A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134607030A>T , CM000667.2:g.134607030A>T	GRCh38
NC_000005.9:g.133942720A>T , CM000667.1:g.133942720A>T	GRCh37
NC_000005.8:g.133970619A>T	NCBI36
NG_017002.1:g.30814T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402673.7:c.517T>A MANE Select	ENSP00000385432.2:p.Leu173Ile
ENST00000402673.6:c.517T>A	ENSP00000385432.2:p.Leu173Ile
ENST00000439578.5:c.517T>A	ENSP00000404997.1:p.Leu173Ile
ENST00000502539.5:c.313T>A	ENSP00000426335.1:p.Leu105Ile
ENST00000503318.5:c.*240T>A	ENSP00000425367.1:n.*240T>A
ENST00000507419.5:c.313T>A	ENSP00000425339.1:p.Leu105Ile
ENST00000508363.5:n.2486T>A
ENST00000509730.5:c.313T>A	ENSP00000423197.1:p.Leu105Ile
ENST00000509937.5:c.313T>A	ENSP00000424673.1:p.Leu105Ile
NM_001033503.2:c.517T>A	NP_001028675.1:p.Leu173Ile
NM_016103.3:c.517T>A	NP_057187.1:p.Leu173Ile
NM_016103.4:c.517T>A MANE Select	NP_057187.1:p.Leu173Ile
NM_001033503.3:c.517T>A	NP_001028675.1:p.Leu173Ile