Canonical Allele Identifier: CA390305937
Community Standard Title: NM_000021.4(PSEN1):c.1247T>C (p.Ile416Thr)
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73217243T>C , CM000676.2:g.73217243T>C GRCh38
NC_000014.8:g.73683951T>C , CM000676.1:g.73683951T>C GRCh37
NC_000014.7:g.72753704T>C NCBI36
NG_007386.2:g.85773T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000021.4:c.1247T>C MANE Select NP_000012.1:p.Ile416Thr
ENST00000324501.10:c.1247T>C MANE Select ENSP00000326366.5:p.Ile416Thr
NM_000021.3:c.1247T>C NP_000012.1:p.Ile416Thr
NM_007318.2:c.1235T>C NP_015557.2:p.Ile412Thr
NM_007318.3:c.1235T>C NP_015557.2:p.Ile412Thr
ENST00000324501.9:c.1247T>C ENSP00000326366.5:p.Ile416Thr
ENST00000357710.8:c.1235T>C ENSP00000350342.4:p.Ile412Thr
ENST00000394164.5:c.1235T>C ENSP00000377719.1:p.Ile412Thr
ENST00000406768.1:c.971T>C ENSP00000385948.1:p.Ile324Thr
ENST00000553599.6:c.1235T>C ENSP00000452477.2:p.Ile412Thr
ENST00000554131.6:c.1247T>C ENSP00000451915.2:p.Ile416Thr
ENST00000554995.2:n.1997T>C
ENST00000555386.5:c.1327T>C ENSP00000450845.1:n.1327T>C
ENST00000555386.6:c.*202T>C ENSP00000450845.1:n.*202T>C
ENST00000555867.1:n.612T>C
ENST00000556066.2:n.1673T>C
ENST00000556951.6:c.1235T>C ENSP00000450551.2:p.Ile412Thr
ENST00000557293.6:c.1127T>C ENSP00000451880.2:p.Ile376Thr
ENST00000557511.5:c.1073T>C ENSP00000451429.1:p.Ile358Thr
ENST00000559361.6:c.*1191T>C ENSP00000454156.1:n.*1191T>C
ENST00000697912.1:c.*435T>C ENSP00000513477.1:n.*435T>C
ENST00000697913.1:n.6797T>C
ENST00000697915.1:n.604T>C
ENST00000700265.1:c.1235T>C ENSP00000514901.1:p.Ile412Thr
ENST00000700266.1:c.*1459T>C ENSP00000514902.1:n.*1459T>C
ENST00000700267.1:c.1247T>C ENSP00000514903.1:p.Ile416Thr
ENST00000700268.1:c.1247T>C ENSP00000514904.1:p.Ile416Thr
ENST00000700269.1:c.1247T>C ENSP00000514905.1:p.Ile416Thr
ENST00000700271.1:c.1061T>C ENSP00000514906.1:p.Ile354Thr
ENST00000700272.1:c.*1191T>C ENSP00000514907.1:n.*1191T>C
ENST00000700273.1:c.1235T>C ENSP00000514908.1:p.Ile412Thr
ENST00000700302.1:c.*63T>C ENSP00000514929.1:n.*63T>C
ENST00000700303.1:c.*909T>C ENSP00000514930.1:n.*909T>C
ENST00000700304.1:c.*1191T>C ENSP00000514931.1:n.*1191T>C
ENST00000700305.1:c.*805T>C ENSP00000514932.1:n.*805T>C
ENST00000700306.1:c.1247T>C ENSP00000514933.1:p.Ile416Thr
ENST00000700307.1:c.1148T>C ENSP00000514934.1:p.Ile383Thr
ENST00000700308.1:c.*1191T>C ENSP00000514935.1:n.*1191T>C
ENST00000700309.1:c.*1336T>C ENSP00000514936.1:n.*1336T>C
ENST00000700310.1:c.*202T>C ENSP00000514937.1:n.*202T>C
ENST00000700311.1:c.*63T>C ENSP00000514938.1:n.*63T>C
ENST00000700312.1:c.998T>C ENSP00000514939.1:p.Ile333Thr
ENST00000700313.1:c.1235T>C ENSP00000514940.1:p.Ile412Thr
ENST00000700314.1:c.*1186T>C ENSP00000514941.1:n.*1186T>C
ENST00000700315.1:c.*805T>C ENSP00000514942.1:n.*805T>C
ENST00000700316.1:c.*1027T>C ENSP00000514943.1:n.*1027T>C
ENST00000700317.1:c.1247T>C ENSP00000514944.1:p.Ile416Thr
ENST00000700318.1:c.*909T>C ENSP00000514945.1:n.*909T>C
ENST00000700319.1:c.*687T>C ENSP00000514946.1:n.*687T>C
ENST00000700320.1:c.1274T>C ENSP00000514947.1:p.Ile425Thr
ENST00000700321.1:c.1247T>C ENSP00000514948.1:p.Ile416Thr
ENST00000700322.1:c.1235T>C ENSP00000514949.1:p.Ile412Thr
ENST00000700323.1:c.1247T>C ENSP00000514950.1:p.Ile416Thr
ENST00000700324.1:c.1235T>C ENSP00000514951.1:p.Ile412Thr
ENST00000700375.1:c.1247T>C ENSP00000514966.1:p.Ile416Thr
ENST00000700377.1:c.*715T>C ENSP00000514967.1:n.*715T>C
ENST00000700378.1:c.1247T>C ENSP00000514968.1:p.Ile416Thr
ENST00000700379.1:n.1645T>C
ENST00000700389.1:c.1235T>C ENSP00000514970.1:p.Ile412Thr
ENST00000700390.1:n.2958T>C
ENST00000700391.1:n.458T>C
ENST00000700404.1:n.2246T>C
ENST00000700436.1:c.*202T>C ENSP00000514987.1:n.*202T>C
ENST00000700437.1:c.998T>C ENSP00000514988.1:p.Ile333Thr
ENST00000700468.1:c.1136T>C ENSP00000515001.1:p.Ile379Thr
ENST00000700469.1:c.1235T>C ENSP00000515002.1:p.Ile412Thr
XM_005267864.1:c.1247T>C XP_005267921.1:p.Ile416Thr
XM_005267864.3:c.1247T>C XP_005267921.1:p.Ile416Thr
XM_005267866.1:c.1235T>C XP_005267923.1:p.Ile412Thr
XM_005267866.2:c.1235T>C XP_005267923.1:p.Ile412Thr
XM_011536971.1:c.1247T>C XP_011535273.1:p.Ile416Thr
XM_011536972.1:c.1247T>C XP_011535274.1:p.Ile416Thr
XM_011536972.2:c.1247T>C XP_011535274.1:p.Ile416Thr
XM_011536973.1:c.1235T>C XP_011535275.1:p.Ile412Thr
XM_011536973.2:c.1235T>C XP_011535275.1:p.Ile412Thr
XM_011536974.1:c.1235T>C XP_011535276.1:p.Ile412Thr
XM_011536974.2:c.1235T>C XP_011535276.1:p.Ile412Thr