Canonical Allele Identifier: CA996554150
Gene: ELSPBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1268949964

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48024328A>T , CM000681.2:g.48024328A>T GRCh38
NC_000019.9:g.48527585A>T , CM000681.1:g.48527585A>T GRCh37
NC_000019.8:g.53219397A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339841.7:c.*8-624A>T MANE Select ENSP00000340660.2:n.*8-624A>T
ENST00000339841.6:c.*8-624A>T ENSP00000340660.2:n.*8-624A>T
ENST00000593413.1:c.239-603A>T ENSP00000470551.1:n.239-603A>T
ENST00000593782.1:c.514-624A>T
ENST00000597519.5:c.*8-624A>T ENSP00000471690.1:n.*8-624A>T
ENST00000619003.4:c.*13-624A>T ENSP00000481506.1:n.*13-624A>T
NM_022142.4:c.*8-624A>T NP_071425.3:n.*8-624A>T
XM_006723322.2:c.*8-624A>T XP_006723385.1:n.*8-624A>T
XM_017027130.1:c.*8-624A>T XP_016882619.1:n.*8-624A>T
NM_022142.5:c.*8-624A>T MANE Select NP_071425.3:n.*8-624A>T