Revel Score:
ENST00000335606 (MANE Select)
0.780
ENST00000382085
0.780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33998826A>T , CM000667.2:g.33998826A>T | GRCh38 |
| NC_000005.9:g.33998931A>T , CM000667.1:g.33998931A>T | GRCh37 |
| NC_000005.8:g.34034688A>T | NCBI36 |
| NG_016211.1:g.14290T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.554T>A (AMACR) MANE Select | ENSP00000334424.6:p.Val185Glu | |
| ENST00000335606.10:c.554T>A (AMACR) | ENSP00000334424.6:p.Val185Glu | |
| ENST00000382068.3:c.393T>A (AMACR) | ENSP00000477108.1:p.Gly131= | |
| ENST00000382072.6:c.393T>A (AMACR) | ENSP00000371504.2:p.Gly131= | |
| ENST00000382079.3:c.835T>A (C1QTNF3-AMACR) | ENSP00000371511.3:p.Trp279Arg | |
| ENST00000382085.7:c.554T>A (AMACR) | ENSP00000371517.3:p.Val185Glu | |
| ENST00000426255.6:c.554T>A (AMACR) | ENSP00000476965.1:p.Val185Glu | |
| ENST00000502637.5:c.553-44T>A (AMACR) | ENSP00000424351.1:n.553-44T>A | |
| ENST00000506639.5:c.393T>A (AMACR) | ENSP00000427227.1:p.Gly131= | |
| ENST00000512079.5:c.554T>A (AMACR) | ENSP00000477411.1:p.Val185Glu | |
| ENST00000514195.1:n.405T>A (AMACR) | ||
| NM_001167595.1:c.554T>A (AMACR) | NP_001161067.1:p.Val185Glu | |
| NM_014324.5:c.554T>A (AMACR) | NP_055139.4:p.Val185Glu | |
| NM_203382.2:c.393T>A (AMACR) | NP_976316.1:p.Gly131= | |
| NR_037951.1:n.910T>A (C1QTNF3-AMACR) | ||
| NM_014324.6:c.554T>A (AMACR) MANE Select | NP_055139.4:p.Val185Glu | |
| NM_001167595.2:c.554T>A (AMACR) | NP_001161067.1:p.Val185Glu | |
| NM_203382.3:c.393T>A (AMACR) | NP_976316.1:p.Gly131= |