Canonical Allele Identifier: CA513686677

Gene: GP1BB SEPTIN5

Linked Data

• MyVariant Identifiers: chr22:g.19711402G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723879G>C , CM000684.2:g.19723879G>C	GRCh38
NC_000022.10:g.19711402G>C , CM000684.1:g.19711402G>C	GRCh37
NC_000022.9:g.18091402G>C	NCBI36
NG_007974.1:g.5337G>C , LRG_478:g.5337G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.36G>C (GP1BB) MANE Select	ENSP00000383382.2:p.Leu12=
ENST00000366425.3:c.36G>C (GP1BB)	ENSP00000383382.2:p.Leu12=
ENST00000431044.5:c.*1121G>C (SEPTIN5)	ENSP00000399685.1:n.*1121G>C
ENST00000455843.5:c.*1121G>C (SEPTIN5)	ENSP00000391731.1:n.*1121G>C
ENST00000470814.1:n.2008G>C (SEPTIN5)
NM_000407.4:c.36G>C , LRG_478t1:c.36G>C (GP1BB)	NP_000398.1:p.Leu12=
NR_037611.1:n.3776G>C
NR_037612.1:n.2280G>C
NM_000407.5:c.36G>C (GP1BB) MANE Select	NP_000398.1:p.Leu12=