Canonical Allele Identifier: CA6102063

Gene: EHBP1L1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65582285T>G , CM000673.2:g.65582285T>G	GRCh38
NC_000011.9:g.65349756T>G , CM000673.1:g.65349756T>G	GRCh37
NC_000011.8:g.65106332T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309295.9:c.1613T>G MANE Select	ENSP00000312671.4:p.Val538Gly
ENST00000309295.8:c.1613T>G	ENSP00000312671.4:p.Val538Gly
ENST00000526990.1:n.762T>G
ENST00000533237.5:c.1344+269T>G	ENSP00000431996.1:n.1344+269T>G
ENST00000533465.1:c.67+320T>G
ENST00000634639.1:c.780+1034T>G	ENSP00000489002.1:n.780+1034T>G
NM_001099409.1:c.1613T>G	NP_001092879.1:p.Val538Gly
XM_005273867.2:c.1329+320T>G	XP_005273924.1:n.1329+320T>G
XM_005273868.2:c.1329+320T>G	XP_005273925.1:n.1329+320T>G
XM_005273869.2:c.855+959T>G	XP_005273926.1:n.855+959T>G
XM_005273870.2:c.855+959T>G	XP_005273927.1:n.855+959T>G
XM_006718486.2:c.1649T>G	XP_006718549.1:p.Val550Gly
XM_006718487.2:c.1649T>G	XP_006718550.1:p.Val550Gly
XM_011544885.1:c.1433T>G	XP_011543187.1:p.Val478Gly
NM_001099409.2:c.1613T>G	NP_001092879.1:p.Val538Gly
NM_001351087.1:c.819+959T>G	NP_001338016.1:n.819+959T>G
XM_005273867.3:c.1329+320T>G	XP_005273924.1:n.1329+320T>G
XM_005273868.3:c.1329+320T>G	XP_005273925.1:n.1329+320T>G
XM_005273869.3:c.855+959T>G	XP_005273926.1:n.855+959T>G
XM_005273870.3:c.855+959T>G	XP_005273927.1:n.855+959T>G
XM_006718486.3:c.1649T>G	XP_006718549.1:p.Val550Gly
XM_006718487.4:c.1649T>G	XP_006718550.1:p.Val550Gly
XM_017017467.1:c.1550T>G	XP_016872956.1:p.Val517Gly
XM_017017468.1:c.1550T>G	XP_016872957.1:p.Val517Gly
XM_024448416.1:c.1329+320T>G	XP_024304184.1:n.1329+320T>G
NM_001099409.3:c.1613T>G MANE Select	NP_001092879.1:p.Val538Gly
NM_001351087.2:c.819+959T>G	NP_001338016.1:n.819+959T>G