Canonical Allele Identifier: CA308624797

Gene: ELSPBP1

Linked Data

• dbSNP Id: rs892155761
• MyVariant Identifiers: chr19:g.48527518G>C (hg19) ; chr19:g.48024261G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48024261G>C , CM000681.2:g.48024261G>C	GRCh38
NC_000019.9:g.48527518G>C , CM000681.1:g.48527518G>C	GRCh37
NC_000019.8:g.53219330G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000339841.7:c.*8-691G>C MANE Select	ENSP00000340660.2:n.*8-691G>C
ENST00000339841.6:c.*8-691G>C	ENSP00000340660.2:n.*8-691G>C
ENST00000593413.1:c.239-670G>C	ENSP00000470551.1:n.239-670G>C
ENST00000593782.1:c.514-691G>C
ENST00000597519.5:c.*8-691G>C	ENSP00000471690.1:n.*8-691G>C
ENST00000619003.4:c.*13-691G>C	ENSP00000481506.1:n.*13-691G>C
NM_022142.4:c.*8-691G>C	NP_071425.3:n.*8-691G>C
XM_006723322.2:c.*8-691G>C	XP_006723385.1:n.*8-691G>C
XM_017027130.1:c.*8-691G>C	XP_016882619.1:n.*8-691G>C
NM_022142.5:c.*8-691G>C MANE Select	NP_071425.3:n.*8-691G>C