Canonical Allele Identifier: CA468161052
Gene: EHMT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.140707518G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813066G>C , CM000671.2:g.137813066G>C GRCh38
NC_000009.11:g.140707518G>C , CM000671.1:g.140707518G>C GRCh37
NC_000009.10:g.139827339G>C NCBI36
NG_011776.1:g.199075G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.2928G>C MANE Select ENSP00000417980.1:p.Leu976=
ENST00000636027.1:c.2814G>C ENSP00000489961.1:p.Leu938=
ENST00000637161.1:c.2835G>C ENSP00000490328.1:p.Leu945=
ENST00000637261.1:c.2968G>C ENSP00000490815.1:n.2968G>C
ENST00000637891.1:c.822G>C ENSP00000490907.1:p.Leu274=
ENST00000460843.5:c.2928G>C ENSP00000417980.1:p.Leu976=
ENST00000462942.3:c.1785G>C ENSP00000436107.1:p.Leu595=
ENST00000486164.5:c.615G>C
ENST00000488242.2:n.454G>C
NM_024757.4:c.2928G>C NP_079033.4:p.Leu976=
XM_005266105.3:c.2919G>C XP_005266162.1:p.Leu973=
XM_005266110.1:c.2835G>C XP_005266167.1:p.Leu945=
XM_006717288.2:c.2910G>C XP_006717351.1:p.Leu970=
XM_011519021.1:c.2937G>C XP_011517323.1:p.Leu979=
XM_011519022.1:c.2934G>C XP_011517324.1:p.Leu978=
XM_011519023.1:c.2916G>C XP_011517325.1:p.Leu972=
XM_011519024.1:c.2859G>C XP_011517326.1:p.Leu953=
XM_011519025.1:c.2835G>C XP_011517327.1:p.Leu945=
XM_011519026.1:c.2793G>C XP_011517328.1:p.Leu931=
XM_011519029.1:c.1359G>C XP_011517331.1:p.Leu453=
XM_011519030.1:c.711G>C XP_011517332.1:p.Leu237=
XM_011519031.1:c.498G>C XP_011517333.1:p.Leu166=
XM_011519032.1:c.498G>C XP_011517334.1:p.Leu166=
XM_011519033.1:c.2772G>C XP_011517335.1:p.Leu924=
NM_001354263.1:c.2907G>C NP_001341192.1:p.Leu969=
XM_005266105.5:c.2919G>C XP_005266162.1:p.Leu973=
XM_011519021.3:c.2937G>C XP_011517323.1:p.Leu979=
XM_011519022.3:c.2934G>C XP_011517324.1:p.Leu978=
XM_011519023.3:c.2916G>C XP_011517325.1:p.Leu972=
XM_011519029.3:c.1359G>C XP_011517331.1:p.Leu453=
XM_011519030.3:c.711G>C XP_011517332.1:p.Leu237=
XM_017015134.1:c.2913G>C XP_016870623.1:p.Leu971=
XM_017015136.2:c.2829G>C XP_016870625.1:p.Leu943=
XM_017015137.1:c.2814G>C XP_016870626.1:p.Leu938=
XM_017015138.1:c.2814G>C XP_016870627.1:p.Leu938=
XM_024447674.1:c.2757G>C XP_024303442.1:p.Leu919=
XM_024447675.1:c.2691G>C XP_024303443.1:p.Leu897=
XM_024447676.1:c.2052G>C XP_024303444.1:p.Leu684=
XM_024447677.1:c.2052G>C XP_024303445.1:p.Leu684=
XM_024447680.1:c.2670G>C XP_024303448.1:p.Leu890=
NM_024757.5:c.2928G>C MANE Select NP_079033.4:p.Leu976=
NM_001354263.2:c.2907G>C NP_001341192.1:p.Leu969=