Canonical Allele Identifier: CA402339738

Gene: EPG5

Linked Data

• dbSNP Id: rs1443737412
• gnomAD v2: 18-43490498-T-G
• gnomAD v3: 18-45910533-T-G
• gnomAD v4: 18-45910533-T-G
• MyVariant Identifiers: chr18:g.43490498T>G (hg19) ; chr18:g.45910533T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910533T>G , CM000680.2:g.45910533T>G	GRCh38
NC_000018.9:g.43490498T>G , CM000680.1:g.43490498T>G	GRCh37
NC_000018.8:g.41744496T>G	NCBI36
NG_042838.1:g.61807A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2377A>C
ENST00000587884.2:c.4193A>C	ENSP00000466990.2:p.Lys1398Thr
ENST00000590884.6:c.4193A>C	ENSP00000466403.2:p.Lys1398Thr
ENST00000592272.6:c.4193A>C	ENSP00000467464.2:p.Lys1398Thr
ENST00000696482.1:c.3933A>C	ENSP00000512656.1:n.3933A>C
ENST00000696483.1:c.4193A>C	ENSP00000512657.1:p.Lys1398Thr
ENST00000696484.1:c.4193A>C	ENSP00000512658.1:p.Lys1398Thr
ENST00000696485.1:c.4193A>C	ENSP00000512659.1:p.Lys1398Thr
ENST00000696489.1:c.4193A>C	ENSP00000512660.1:p.Lys1398Thr
ENST00000696490.1:c.4193A>C	ENSP00000512661.1:p.Lys1398Thr
ENST00000282041.11:c.4193A>C MANE Select	ENSP00000282041.4:p.Lys1398Thr
ENST00000282041.9:c.4193A>C	ENSP00000282041.4:p.Lys1398Thr
ENST00000585906.5:n.972A>C
ENST00000587884.1:c.818A>C	ENSP00000466990.1:p.Lys273Thr
ENST00000587974.1:n.4228A>C
ENST00000590884.5:c.818A>C	ENSP00000466403.1:p.Lys273Thr
ENST00000592272.5:c.818A>C	ENSP00000467464.1:p.Lys273Thr
NM_020964.2:c.4193A>C	NP_066015.2:p.Lys1398Thr
XM_011526120.1:c.4220A>C	XP_011524422.1:p.Lys1407Thr
XM_011526121.1:c.4220A>C	XP_011524423.1:p.Lys1407Thr
XM_011526122.1:c.4193A>C	XP_011524424.1:p.Lys1398Thr
XM_011526123.1:c.4220A>C	XP_011524425.1:p.Lys1407Thr
XM_011526124.1:c.4220A>C	XP_011524426.1:p.Lys1407Thr
XM_011526125.1:c.4079A>C	XP_011524427.1:p.Lys1360Thr
XM_011526126.1:c.3155A>C	XP_011524428.1:p.Lys1052Thr
XM_011526127.1:c.4220A>C	XP_011524429.1:p.Lys1407Thr
XM_011526128.1:c.4220A>C	XP_011524430.1:p.Lys1407Thr
XR_935244.1:n.4293A>C
NM_020964.3:c.4193A>C MANE Select	NP_066015.2:p.Lys1398Thr
XM_017025889.1:c.4193A>C	XP_016881378.1:p.Lys1398Thr
XM_017025890.2:c.4193A>C	XP_016881379.1:p.Lys1398Thr
XM_017025891.1:c.4052A>C	XP_016881380.1:p.Lys1351Thr
XM_017025892.1:c.3128A>C	XP_016881381.1:p.Lys1043Thr
XM_017025893.1:c.818A>C	XP_016881382.1:p.Lys273Thr
XR_001753256.1:n.4275A>C
XR_001753257.1:n.4275A>C