Canonical Allele Identifier: CA2339699239
Gene: ELSPBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48024265G= , CM000681.2:g.48024265G= GRCh38
NC_000019.9:g.48527522G= , CM000681.1:g.48527522G= GRCh37
NC_000019.8:g.53219334G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339841.7:c.*8-687G= MANE Select ENSP00000340660.2:n.*8-687G=
ENST00000339841.6:c.*8-687G= ENSP00000340660.2:n.*8-687G=
ENST00000593413.1:c.239-666G= ENSP00000470551.1:n.239-666G=
ENST00000593782.1:c.514-687G=
ENST00000597519.5:c.*8-687G= ENSP00000471690.1:n.*8-687G=
ENST00000619003.4:c.*13-687G= ENSP00000481506.1:n.*13-687G=
NM_022142.4:c.*8-687G= NP_071425.3:n.*8-687G=
XM_006723322.2:c.*8-687G= XP_006723385.1:n.*8-687G=
XM_017027130.1:c.*8-687G= XP_016882619.1:n.*8-687G=
NM_022142.5:c.*8-687G= MANE Select NP_071425.3:n.*8-687G=