Canonical Allele Identifier: CA28626948

Gene: ELAPOR1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109165601G>C , CM000663.2:g.109165601G>C	GRCh38
NC_000001.10:g.109708223G>C , CM000663.1:g.109708223G>C	GRCh37
NC_000001.9:g.109509746G>C	NCBI36
NG_032763.1:g.56639G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369939.8:c.467+910G>C MANE Select	ENSP00000358955.3:n.467+910G>C
ENST00000369939.7:c.467+910G>C	ENSP00000358955.3:n.467+910G>C
ENST00000457623.6:c.467+910G>C	ENSP00000393964.2:n.467+910G>C
ENST00000490758.6:n.357+910G>C
ENST00000527996.5:c.*157+910G>C	ENSP00000432023.1:n.*157+910G>C
ENST00000529753.5:c.467+910G>C	ENSP00000434595.1:n.467+910G>C
ENST00000531664.5:c.467+910G>C	ENSP00000431349.1:n.467+910G>C
NM_001267048.1:c.467+910G>C	NP_001253977.1:n.467+910G>C
NM_001284352.1:c.161+910G>C	NP_001271281.1:n.161+910G>C
NM_020775.4:c.467+910G>C	NP_065826.2:n.467+910G>C
XM_011541825.1:c.467+910G>C	XP_011540127.1:n.467+910G>C
XM_011541826.1:c.467+910G>C	XP_011540128.1:n.467+910G>C
XM_011541827.1:c.467+910G>C	XP_011540129.1:n.467+910G>C
XM_011541825.2:c.467+910G>C	XP_011540127.1:n.467+910G>C
XM_011541826.3:c.467+910G>C	XP_011540128.1:n.467+910G>C
XM_011541827.2:c.467+910G>C	XP_011540129.1:n.467+910G>C
XM_017001883.2:c.-381+910G>C	XP_016857372.1:n.-381+910G>C
NM_020775.5:c.467+910G>C MANE Select	NP_065826.3:n.467+910G>C
NM_001267048.2:c.467+910G>C	NP_001253977.2:n.467+910G>C
NM_001284352.2:c.161+910G>C	NP_001271281.1:n.161+910G>C