Canonical Allele Identifier: CA513369018

Gene: GP1BB SEPTIN5

Linked Data

• MyVariant Identifiers: chr22:g.19711966A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724443A>T , CM000684.2:g.19724443A>T	GRCh38
NC_000022.10:g.19711966A>T , CM000684.1:g.19711966A>T	GRCh37
NC_000022.9:g.18091966A>T	NCBI36
NG_007974.1:g.5901A>T , LRG_478:g.5901A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.600A>T (GP1BB) MANE Select	ENSP00000383382.2:p.Arg200=
ENST00000366425.3:c.600A>T (GP1BB)	ENSP00000383382.2:p.Arg200=
ENST00000431044.5:c.*1685A>T (SEPTIN5)	ENSP00000399685.1:n.*1685A>T
NM_000407.4:c.600A>T , LRG_478t1:c.600A>T (GP1BB)	NP_000398.1:p.Arg200=
NR_037611.1:n.4340A>T
NR_037612.1:n.2844A>T
NM_000407.5:c.600A>T (GP1BB) MANE Select	NP_000398.1:p.Arg200=