Canonical Allele Identifier: CA338968546

Gene: KDM1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23072196A>C , CM000663.2:g.23072196A>C	GRCh38
NC_000001.10:g.23398689A>C , CM000663.1:g.23398689A>C	GRCh37
NC_000001.9:g.23271276A>C	NCBI36
NG_047129.1:g.57754A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009999.3:c.1621A>C MANE Select	NP_001009999.1:p.Ser541Arg
ENST00000400181.9:c.1621A>C MANE Select	ENSP00000383042.5:p.Ser541Arg
NM_001009999.2:c.1621A>C	NP_001009999.1:p.Ser541Arg
NM_001363654.1:c.1549A>C	NP_001350583.1:p.Ser517Arg
NM_001363654.2:c.1549A>C	NP_001350583.1:p.Ser517Arg
NM_015013.3:c.1549A>C	NP_055828.2:p.Ser517Arg
NM_015013.4:c.1549A>C	NP_055828.2:p.Ser517Arg
ENST00000356634.7:c.1549A>C	ENSP00000349049.3:p.Ser517Arg
ENST00000400181.8:c.1621A>C	ENSP00000383042.4:p.Ser541Arg
ENST00000465864.1:c.73A>C	ENSP00000473297.1:p.Ser25Arg
ENST00000465864.2:c.1549A>C	ENSP00000473297.2:p.Ser517Arg
ENST00000685102.1:c.1609A>C	ENSP00000509257.1:p.Ser537Arg
ENST00000686270.1:c.1609A>C	ENSP00000509279.1:p.Ser537Arg
ENST00000686339.1:c.1549A>C	ENSP00000510111.1:p.Ser517Arg
ENST00000686771.1:c.1315A>C	ENSP00000510484.1:p.Ser439Arg
ENST00000686793.1:n.811A>C
ENST00000686934.1:c.*780A>C	ENSP00000510751.1:n.*780A>C
ENST00000687202.1:n.3776A>C
ENST00000688122.1:n.1703A>C
ENST00000688235.1:n.2914A>C
ENST00000688680.1:c.1609A>C	ENSP00000509483.1:p.Ser537Arg
ENST00000688943.1:n.840A>C
ENST00000689366.1:n.3836A>C
ENST00000689677.1:n.1694A>C
ENST00000689853.1:c.*780A>C	ENSP00000510653.1:n.*780A>C
ENST00000689971.1:n.506+837A>C
ENST00000690627.1:c.1375A>C	ENSP00000508820.1:p.Ser459Arg
ENST00000691256.1:c.1549A>C	ENSP00000510513.1:p.Ser517Arg
ENST00000691404.1:c.1609A>C	ENSP00000509252.1:p.Ser537Arg
ENST00000691682.1:c.1549A>C	ENSP00000509679.1:p.Ser517Arg
ENST00000691694.1:c.1609A>C	ENSP00000509771.1:p.Ser537Arg
ENST00000691813.1:c.*780A>C	ENSP00000510547.1:n.*780A>C
ENST00000692056.1:c.1549A>C	ENSP00000509505.1:p.Ser517Arg
ENST00000692209.1:c.1180A>C	ENSP00000510201.1:p.Ser394Arg
ENST00000692214.1:n.2932A>C
ENST00000692853.1:c.1476+837A>C	ENSP00000509649.1:n.1476+837A>C
ENST00000692975.1:c.1549A>C	ENSP00000509892.1:p.Ser517Arg
ENST00000693156.1:c.1549A>C	ENSP00000510144.1:p.Ser517Arg
XM_005245786.1:c.1609A>C	XP_005245843.1:p.Ser537Arg
XM_005245786.2:c.1609A>C	XP_005245843.1:p.Ser537Arg
XM_006710472.2:c.1549A>C	XP_006710535.1:p.Ser517Arg
XM_006710473.1:c.1609A>C	XP_006710536.1:p.Ser537Arg
XM_006710473.3:c.1609A>C	XP_006710536.1:p.Ser537Arg
XM_006710474.2:c.1609A>C	XP_006710537.1:p.Ser537Arg
XM_006710474.3:c.1609A>C	XP_006710537.1:p.Ser537Arg
XM_017000716.1:c.1609A>C	XP_016856205.1:p.Ser537Arg
XM_017000717.1:c.1549A>C	XP_016856206.1:p.Ser517Arg