Canonical Allele Identifier: CA381301859

Gene: EHBP1L1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309295.9:c.1613T>C MANE Select	ENSP00000312671.4:p.Val538Ala
ENST00000309295.8:c.1613T>C	ENSP00000312671.4:p.Val538Ala
ENST00000526990.1:n.762T>C
ENST00000533237.5:c.1344+269T>C	ENSP00000431996.1:n.1344+269T>C
ENST00000533465.1:c.67+320T>C
ENST00000634639.1:c.780+1034T>C	ENSP00000489002.1:n.780+1034T>C
NM_001099409.1:c.1613T>C	NP_001092879.1:p.Val538Ala
XM_005273867.2:c.1329+320T>C	XP_005273924.1:n.1329+320T>C
XM_005273868.2:c.1329+320T>C	XP_005273925.1:n.1329+320T>C
XM_005273869.2:c.855+959T>C	XP_005273926.1:n.855+959T>C
XM_005273870.2:c.855+959T>C	XP_005273927.1:n.855+959T>C
XM_006718486.2:c.1649T>C	XP_006718549.1:p.Val550Ala
XM_006718487.2:c.1649T>C	XP_006718550.1:p.Val550Ala
XM_011544885.1:c.1433T>C	XP_011543187.1:p.Val478Ala
NM_001099409.2:c.1613T>C	NP_001092879.1:p.Val538Ala
NM_001351087.1:c.819+959T>C	NP_001338016.1:n.819+959T>C
XM_005273867.3:c.1329+320T>C	XP_005273924.1:n.1329+320T>C
XM_005273868.3:c.1329+320T>C	XP_005273925.1:n.1329+320T>C
XM_005273869.3:c.855+959T>C	XP_005273926.1:n.855+959T>C
XM_005273870.3:c.855+959T>C	XP_005273927.1:n.855+959T>C
XM_006718486.3:c.1649T>C	XP_006718549.1:p.Val550Ala
XM_006718487.4:c.1649T>C	XP_006718550.1:p.Val550Ala
XM_017017467.1:c.1550T>C	XP_016872956.1:p.Val517Ala
XM_017017468.1:c.1550T>C	XP_016872957.1:p.Val517Ala
XM_024448416.1:c.1329+320T>C	XP_024304184.1:n.1329+320T>C
NM_001099409.3:c.1613T>C MANE Select	NP_001092879.1:p.Val538Ala
NM_001351087.2:c.819+959T>C	NP_001338016.1:n.819+959T>C