Canonical Allele Identifier: CA446505370

Gene: SAR1B

Linked Data

• MyVariant Identifiers: chr5:g.133942718T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134607028T>C , CM000667.2:g.134607028T>C	GRCh38
NC_000005.9:g.133942718T>C , CM000667.1:g.133942718T>C	GRCh37
NC_000005.8:g.133970617T>C	NCBI36
NG_017002.1:g.30816A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402673.7:c.519A>G MANE Select	ENSP00000385432.2:p.Leu173=
ENST00000402673.6:c.519A>G	ENSP00000385432.2:p.Leu173=
ENST00000439578.5:c.519A>G	ENSP00000404997.1:p.Leu173=
ENST00000502539.5:c.315A>G	ENSP00000426335.1:p.Leu105=
ENST00000503318.5:c.*242A>G	ENSP00000425367.1:n.*242A>G
ENST00000507419.5:c.315A>G	ENSP00000425339.1:p.Leu105=
ENST00000508363.5:n.2488A>G
ENST00000509730.5:c.315A>G	ENSP00000423197.1:p.Leu105=
ENST00000509937.5:c.315A>G	ENSP00000424673.1:p.Leu105=
NM_001033503.2:c.519A>G	NP_001028675.1:p.Leu173=
NM_016103.3:c.519A>G	NP_057187.1:p.Leu173=
NM_016103.4:c.519A>G MANE Select	NP_057187.1:p.Leu173=
NM_001033503.3:c.519A>G	NP_001028675.1:p.Leu173=