Canonical Allele Identifier: CA2339699241

Gene: ELSPBP1

Linked Data

• dbSNP Id: rs1967247050

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48024272T>C , CM000681.2:g.48024272T>C	GRCh38
NC_000019.9:g.48527529T>C , CM000681.1:g.48527529T>C	GRCh37
NC_000019.8:g.53219341T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339841.7:c.*8-680T>C MANE Select	ENSP00000340660.2:n.*8-680T>C
ENST00000339841.6:c.*8-680T>C	ENSP00000340660.2:n.*8-680T>C
ENST00000593413.1:c.239-659T>C	ENSP00000470551.1:n.239-659T>C
ENST00000593782.1:c.514-680T>C
ENST00000597519.5:c.*8-680T>C	ENSP00000471690.1:n.*8-680T>C
ENST00000619003.4:c.*13-680T>C	ENSP00000481506.1:n.*13-680T>C
NM_022142.4:c.*8-680T>C	NP_071425.3:n.*8-680T>C
XM_006723322.2:c.*8-680T>C	XP_006723385.1:n.*8-680T>C
XM_017027130.1:c.*8-680T>C	XP_016882619.1:n.*8-680T>C
NM_022142.5:c.*8-680T>C MANE Select	NP_071425.3:n.*8-680T>C