Canonical Allele Identifier: CA360999646

Gene: SAR1B

Linked Data

• MyVariant Identifiers: chr5:g.133942718T>A (hg19) ; chr5:g.134607028T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402673.7:c.519A>T MANE Select	ENSP00000385432.2:p.Leu173Phe
ENST00000402673.6:c.519A>T	ENSP00000385432.2:p.Leu173Phe
ENST00000439578.5:c.519A>T	ENSP00000404997.1:p.Leu173Phe
ENST00000502539.5:c.315A>T	ENSP00000426335.1:p.Leu105Phe
ENST00000503318.5:c.*242A>T	ENSP00000425367.1:n.*242A>T
ENST00000507419.5:c.315A>T	ENSP00000425339.1:p.Leu105Phe
ENST00000508363.5:n.2488A>T
ENST00000509730.5:c.315A>T	ENSP00000423197.1:p.Leu105Phe
ENST00000509937.5:c.315A>T	ENSP00000424673.1:p.Leu105Phe
NM_001033503.2:c.519A>T	NP_001028675.1:p.Leu173Phe
NM_016103.3:c.519A>T	NP_057187.1:p.Leu173Phe
NM_016103.4:c.519A>T MANE Select	NP_057187.1:p.Leu173Phe
NM_001033503.3:c.519A>T	NP_001028675.1:p.Leu173Phe