Canonical Allele Identifier: CA394224948

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570730T>A (hg19) ; chr16:g.1520729T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520729T>A , CM000678.2:g.1520729T>A	GRCh38
NC_000016.9:g.1570730T>A , CM000678.1:g.1570730T>A	GRCh37
NC_000016.8:g.1510731T>A	NCBI36
NG_032783.1:g.96380A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3533A>T MANE Select	ENSP00000406012.2:p.Lys1178Met
ENST00000361339.9:c.1115A>T	ENSP00000354895.5:p.Lys372Met
ENST00000397417.6:c.*1971A>T	ENSP00000380562.2:n.*1971A>T
ENST00000426508.6:c.3533A>T	ENSP00000406012.2:p.Lys1178Met
ENST00000565298.5:n.3357A>T
NM_014714.3:c.3533A>T	NP_055529.2:p.Lys1178Met
XM_006720989.2:c.3533A>T	XP_006721052.1:p.Lys1178Met
XM_006720990.2:c.3533A>T	XP_006721053.1:p.Lys1178Met
XM_006720991.2:c.3533A>T	XP_006721054.1:p.Lys1178Met
XM_006720992.2:c.1166A>T	XP_006721055.1:p.Lys389Met
XM_011522766.1:c.3287A>T	XP_011521068.1:p.Lys1096Met
XM_011522767.1:c.2558A>T	XP_011521069.1:p.Lys853Met
XM_006720990.3:c.3533A>T	XP_006721053.1:p.Lys1178Met
XM_006720991.3:c.3533A>T	XP_006721054.1:p.Lys1178Met
XM_006720992.3:c.1166A>T	XP_006721055.1:p.Lys389Met
XM_011522766.3:c.3287A>T	XP_011521068.1:p.Lys1096Met
XM_011522767.2:c.2558A>T	XP_011521069.1:p.Lys853Met
XM_017023910.1:c.3533A>T	XP_016879399.1:p.Lys1178Met
XM_017023911.1:c.1718A>T	XP_016879400.1:p.Lys573Met
NM_014714.4:c.3533A>T MANE Select	NP_055529.2:p.Lys1178Met