Canonical Allele Identifier: CA446505310

Gene: SAR1B

Linked Data

• MyVariant Identifiers: chr5:g.133942694G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134607004G>A , CM000667.2:g.134607004G>A	GRCh38
NC_000005.9:g.133942694G>A , CM000667.1:g.133942694G>A	GRCh37
NC_000005.8:g.133970593G>A	NCBI36
NG_017002.1:g.30840C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402673.7:c.543C>T MANE Select	ENSP00000385432.2:p.Leu181=
ENST00000402673.6:c.543C>T	ENSP00000385432.2:p.Leu181=
ENST00000439578.5:c.543C>T	ENSP00000404997.1:p.Leu181=
ENST00000502539.5:c.339C>T	ENSP00000426335.1:p.Leu113=
ENST00000503318.5:c.*266C>T	ENSP00000425367.1:n.*266C>T
ENST00000507419.5:c.339C>T	ENSP00000425339.1:p.Leu113=
ENST00000508363.5:n.2512C>T
ENST00000509730.5:c.339C>T	ENSP00000423197.1:p.Leu113=
ENST00000509937.5:c.339C>T	ENSP00000424673.1:p.Leu113=
NM_001033503.2:c.543C>T	NP_001028675.1:p.Leu181=
NM_016103.3:c.543C>T	NP_057187.1:p.Leu181=
NM_016103.4:c.543C>T MANE Select	NP_057187.1:p.Leu181=
NM_001033503.3:c.543C>T	NP_001028675.1:p.Leu181=