Canonical Allele Identifier: CA375754213

Gene: NSMF

Linked Data

• MyVariant Identifiers: chr9:g.140344113A>G (hg19) ; chr9:g.137449661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137449661A>G , CM000671.2:g.137449661A>G	GRCh38
NC_000009.11:g.140344113A>G , CM000671.1:g.140344113A>G	GRCh37
NC_000009.10:g.139463934A>G	NCBI36
NG_021362.1:g.14674T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265663.12:c.1427T>C	ENSP00000265663.7:p.Leu476Pro
ENST00000371475.9:c.1433T>C MANE Select	ENSP00000360530.3:p.Leu478Pro
ENST00000265663.11:c.1427T>C	ENSP00000265663.7:p.Leu476Pro
ENST00000339554.7:c.824T>C	ENSP00000342966.3:p.Leu275Pro
ENST00000371472.6:c.1427T>C	ENSP00000360527.1:p.Leu476Pro
ENST00000371473.7:c.1343T>C	ENSP00000360528.3:p.Leu448Pro
ENST00000371474.7:c.1358T>C	ENSP00000360529.3:p.Leu453Pro
ENST00000371475.7:c.1433T>C	ENSP00000360530.3:p.Leu478Pro
ENST00000371482.5:c.425T>C	ENSP00000360537.1:p.Leu142Pro
ENST00000437259.5:c.1364T>C	ENSP00000412007.1:p.Leu455Pro
ENST00000484316.5:n.879T>C
NM_001130969.1:c.1433T>C	NP_001124441.1:p.Leu478Pro
NM_001130970.1:c.1364T>C	NP_001124442.1:p.Leu455Pro
NM_001130971.1:c.1358T>C	NP_001124443.1:p.Leu453Pro
NM_001178064.1:c.1343T>C	NP_001171535.1:p.Leu448Pro
NM_015537.4:c.1427T>C	NP_056352.3:p.Leu476Pro
XM_005266061.3:c.1337T>C	XP_005266118.1:p.Leu446Pro
XM_005266062.3:c.1268T>C	XP_005266119.1:p.Leu423Pro
XM_011518496.1:c.1274T>C	XP_011516798.1:p.Leu425Pro
XM_011518497.1:c.632T>C	XP_011516799.1:p.Leu211Pro
XM_005266061.5:c.1337T>C	XP_005266118.1:p.Leu446Pro
XM_005266062.5:c.1268T>C	XP_005266119.1:p.Leu423Pro
XM_011518496.3:c.1274T>C	XP_011516798.1:p.Leu425Pro
XM_011518497.2:c.632T>C	XP_011516799.1:p.Leu211Pro
XM_017014597.2:c.905T>C	XP_016870086.1:p.Leu302Pro
NM_001130969.3:c.1433T>C MANE Select	NP_001124441.1:p.Leu478Pro
NM_001130970.2:c.1364T>C	NP_001124442.1:p.Leu455Pro
NM_001130971.2:c.1358T>C	NP_001124443.1:p.Leu453Pro
NM_001178064.2:c.1343T>C	NP_001171535.1:p.Leu448Pro
NM_015537.5:c.1427T>C	NP_056352.3:p.Leu476Pro