Canonical Allele Identifier: CA360999638

Gene: SAR1B

Linked Data

• MyVariant Identifiers: chr5:g.133942714C>T (hg19) ; chr5:g.134607024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134607024C>T , CM000667.2:g.134607024C>T	GRCh38
NC_000005.9:g.133942714C>T , CM000667.1:g.133942714C>T	GRCh37
NC_000005.8:g.133970613C>T	NCBI36
NG_017002.1:g.30820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402673.7:c.523G>A MANE Select	ENSP00000385432.2:p.Val175Ile
ENST00000402673.6:c.523G>A	ENSP00000385432.2:p.Val175Ile
ENST00000439578.5:c.523G>A	ENSP00000404997.1:p.Val175Ile
ENST00000502539.5:c.319G>A	ENSP00000426335.1:p.Val107Ile
ENST00000503318.5:c.*246G>A	ENSP00000425367.1:n.*246G>A
ENST00000507419.5:c.319G>A	ENSP00000425339.1:p.Val107Ile
ENST00000508363.5:n.2492G>A
ENST00000509730.5:c.319G>A	ENSP00000423197.1:p.Val107Ile
ENST00000509937.5:c.319G>A	ENSP00000424673.1:p.Val107Ile
NM_001033503.2:c.523G>A	NP_001028675.1:p.Val175Ile
NM_016103.3:c.523G>A	NP_057187.1:p.Val175Ile
NM_016103.4:c.523G>A MANE Select	NP_057187.1:p.Val175Ile
NM_001033503.3:c.523G>A	NP_001028675.1:p.Val175Ile