Canonical Allele Identifier: CA2580585831

Gene: EHBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.62904596G>C , CM000664.2:g.62904596G>C	GRCh38
NC_000002.11:g.63131731G>C , CM000664.1:g.63131731G>C	GRCh37
NC_000002.10:g.62985235G>C	NCBI36
NG_016758.1:g.235746G>C
NG_016758.2:g.235746G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000431489.6:c.1185+30064G>C MANE Select	ENSP00000403783.1:n.1185+30064G>C
ENST00000263991.9:c.1290+30064G>C	ENSP00000263991.5:n.1290+30064G>C
ENST00000405015.7:c.1185+30064G>C	ENSP00000384143.3:n.1185+30064G>C
ENST00000405289.5:c.1185+30064G>C	ENSP00000385524.1:n.1185+30064G>C
ENST00000431489.5:c.1185+30064G>C	ENSP00000403783.1:n.1185+30064G>C
NM_001142614.1:c.1185+30064G>C	NP_001136086.1:n.1185+30064G>C
NM_001142615.2:c.1185+30064G>C	NP_001136087.1:n.1185+30064G>C
NM_001142616.1:c.1185+30064G>C	NP_001136088.1:n.1185+30064G>C
NM_015252.3:c.1290+30064G>C	NP_056067.2:n.1290+30064G>C
XM_005264225.1:c.1290+30064G>C	XP_005264282.1:n.1290+30064G>C
XM_005264226.1:c.1290+30064G>C	XP_005264283.1:n.1290+30064G>C
XM_005264227.1:c.1185+30064G>C	XP_005264284.1:n.1185+30064G>C
XM_005264228.1:c.1290+30064G>C	XP_005264285.1:n.1290+30064G>C
XM_006711971.1:c.1290+30064G>C	XP_006712034.1:n.1290+30064G>C
XM_011532713.1:c.1290+30064G>C	XP_011531015.1:n.1290+30064G>C
XM_011532714.1:c.1290+30064G>C	XP_011531016.1:n.1290+30064G>C
XM_011532715.1:c.1290+30064G>C	XP_011531017.1:n.1290+30064G>C
XM_011532716.1:c.1290+30064G>C	XP_011531018.1:n.1290+30064G>C
XM_011532717.1:c.1290+30064G>C	XP_011531019.1:n.1290+30064G>C
XM_011532718.1:c.930+30064G>C	XP_011531020.1:n.930+30064G>C
NM_001142614.2:c.1185+30064G>C	NP_001136086.1:n.1185+30064G>C
NM_001142616.2:c.1185+30064G>C	NP_001136088.1:n.1185+30064G>C
NM_001354212.1:c.1290+30064G>C	NP_001341141.1:n.1290+30064G>C
NM_001354213.1:c.1290+30064G>C	NP_001341142.1:n.1290+30064G>C
NM_001354214.1:c.1290+30064G>C	NP_001341143.1:n.1290+30064G>C
NM_001354215.1:c.1290+30064G>C	NP_001341144.1:n.1290+30064G>C
NM_001354216.1:c.1290+30064G>C	NP_001341145.1:n.1290+30064G>C
NM_001354217.1:c.1290+30064G>C	NP_001341146.1:n.1290+30064G>C
NM_001354218.1:c.1185+30064G>C	NP_001341147.1:n.1185+30064G>C
NM_001354219.1:c.1185+30064G>C	NP_001341148.1:n.1185+30064G>C
NM_001354220.1:c.1185+30064G>C	NP_001341149.1:n.1185+30064G>C
NM_001354221.1:c.1290+30064G>C	NP_001341150.1:n.1290+30064G>C
NM_001354222.1:c.1185+30064G>C	NP_001341151.1:n.1185+30064G>C
NM_015252.4:c.1290+30064G>C	NP_056067.2:n.1290+30064G>C
XM_005264226.3:c.1290+30064G>C	XP_005264283.1:n.1290+30064G>C
XM_006711971.3:c.1290+30064G>C	XP_006712034.1:n.1290+30064G>C
XM_011532715.3:c.1290+30064G>C	XP_011531017.1:n.1290+30064G>C
XM_011532716.3:c.1290+30064G>C	XP_011531018.1:n.1290+30064G>C
XM_011532717.2:c.1290+30064G>C	XP_011531019.1:n.1290+30064G>C
XM_011532718.3:c.930+30064G>C	XP_011531020.1:n.930+30064G>C
XM_017003650.2:c.1290+30064G>C	XP_016859139.1:n.1290+30064G>C
XM_017003654.2:c.1290+30064G>C	XP_016859143.1:n.1290+30064G>C
XM_024452766.1:c.825+30064G>C	XP_024308534.1:n.825+30064G>C
NM_001142615.3:c.1185+30064G>C	NP_001136087.1:n.1185+30064G>C
NM_001142616.3:c.1185+30064G>C MANE Select	NP_001136088.1:n.1185+30064G>C
NM_001354216.2:c.1290+30064G>C	NP_001341145.1:n.1290+30064G>C
NM_001354219.2:c.1185+30064G>C	NP_001341148.1:n.1185+30064G>C
NM_001354221.2:c.1290+30064G>C	NP_001341150.1:n.1290+30064G>C
NM_001354222.2:c.1185+30064G>C	NP_001341151.1:n.1185+30064G>C
NM_015252.5:c.1290+30064G>C	NP_056067.2:n.1290+30064G>C