Canonical Allele Identifier: CA375755707
Community Standard Title: NM_001130969.3(NSMF):c.1261C>T (p.Leu421Phe)
Gene: NSMF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137450231G>A , CM000671.2:g.137450231G>A GRCh38
NC_000009.11:g.140344683G>A , CM000671.1:g.140344683G>A GRCh37
NC_000009.10:g.139464504G>A NCBI36
NG_021362.1:g.14104C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130969.3:c.1261C>T MANE Select NP_001124441.1:p.Leu421Phe
ENST00000371475.9:c.1261C>T MANE Select ENSP00000360530.3:p.Leu421Phe
NM_001130969.1:c.1261C>T NP_001124441.1:p.Leu421Phe
NM_001130970.1:c.1192C>T NP_001124442.1:p.Leu398Phe
NM_001130970.2:c.1192C>T NP_001124442.1:p.Leu398Phe
NM_001130971.1:c.1186C>T NP_001124443.1:p.Leu396Phe
NM_001130971.2:c.1186C>T NP_001124443.1:p.Leu396Phe
NM_001178064.1:c.1171C>T NP_001171535.1:p.Leu391Phe
NM_001178064.2:c.1171C>T NP_001171535.1:p.Leu391Phe
NM_015537.4:c.1255C>T NP_056352.3:p.Leu419Phe
NM_015537.5:c.1255C>T NP_056352.3:p.Leu419Phe
ENST00000265663.11:c.1255C>T ENSP00000265663.7:p.Leu419Phe
ENST00000265663.12:c.1255C>T ENSP00000265663.7:p.Leu419Phe
ENST00000339554.7:c.652C>T ENSP00000342966.3:p.Leu218Phe
ENST00000371472.6:c.1255C>T ENSP00000360527.1:p.Leu419Phe
ENST00000371473.7:c.1171C>T ENSP00000360528.3:p.Leu391Phe
ENST00000371474.7:c.1186C>T ENSP00000360529.3:p.Leu396Phe
ENST00000371475.7:c.1261C>T ENSP00000360530.3:p.Leu421Phe
ENST00000371482.5:c.253C>T ENSP00000360537.1:p.Leu85Phe
ENST00000437259.5:c.1192C>T ENSP00000412007.1:p.Leu398Phe
ENST00000482448.1:n.330C>T
ENST00000484316.5:n.707C>T
XM_005266061.3:c.1165C>T XP_005266118.1:p.Leu389Phe
XM_005266061.5:c.1165C>T XP_005266118.1:p.Leu389Phe
XM_005266062.3:c.1096C>T XP_005266119.1:p.Leu366Phe
XM_005266062.5:c.1096C>T XP_005266119.1:p.Leu366Phe
XM_011518496.1:c.1102C>T XP_011516798.1:p.Leu368Phe
XM_011518496.3:c.1102C>T XP_011516798.1:p.Leu368Phe
XM_011518497.1:c.460C>T XP_011516799.1:p.Leu154Phe
XM_011518497.2:c.460C>T XP_011516799.1:p.Leu154Phe
XM_017014597.2:c.733C>T XP_016870086.1:p.Leu245Phe