Canonical Allele Identifier: CA5450492

Gene: MASTL ACBD5

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27186565T>C , CM000672.2:g.27186565T>C	GRCh38
NC_000010.10:g.27475494T>C , CM000672.1:g.27475494T>C	GRCh37
NC_000010.9:g.27515500T>C	NCBI36
NG_016987.1:g.36742T>C
NG_032960.3:g.67110A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001172303.3:c.*29T>C (MASTL) MANE Select	NP_001165774.1:n.*29T>C
ENST00000375940.9:c.*29T>C (MASTL) MANE Select	ENSP00000365107.5:n.*29T>C
NM_001172303.1:c.*29T>C (MASTL)	NP_001165774.1:n.*29T>C
NM_001172303.2:c.*29T>C (MASTL)	NP_001165774.1:n.*29T>C
NM_001172304.1:c.*29T>C (MASTL)	NP_001165775.1:n.*29T>C
NM_001172304.2:c.*29T>C (MASTL)	NP_001165775.1:n.*29T>C
NM_001172304.3:c.*29T>C (MASTL)	NP_001165775.1:n.*29T>C
NM_001320756.1:c.*29T>C (MASTL)	NP_001307685.1:n.*29T>C
NM_001320756.2:c.*29T>C (MASTL)	NP_001307685.1:n.*29T>C
NM_001320757.1:c.*29T>C (MASTL)	NP_001307686.1:n.*29T>C
NM_001320757.2:c.*29T>C (MASTL)	NP_001307686.1:n.*29T>C
NM_001352570.1:c.1566-2250A>G (ACBD5)	NP_001339499.1:n.1566-2250A>G
NM_001372029.1:c.*29T>C (MASTL)	NP_001358958.1:n.*29T>C
NM_001372030.1:c.*29T>C (MASTL)	NP_001358959.1:n.*29T>C
NM_032844.3:c.*29T>C (MASTL)	NP_116233.2:n.*29T>C
NM_032844.4:c.*29T>C (MASTL)	NP_116233.2:n.*29T>C
NM_032844.5:c.*29T>C (MASTL)	NP_116233.2:n.*29T>C
NR_135469.1:n.3130T>C (MASTL)
NR_135469.2:n.2602T>C (MASTL)
ENST00000342386.10:c.*29T>C (MASTL)	ENSP00000343446.5:n.*29T>C
ENST00000375940.8:c.*29T>C (MASTL)	ENSP00000365107.4:n.*29T>C
ENST00000375946.8:c.*29T>C (MASTL)	ENSP00000365113.4:n.*29T>C
ENST00000477034.2:c.1469T>C (MASTL)	ENSP00000478938.1:n.1469T>C
ENST00000676511.1:c.1494-3850A>G (ACBD5)	ENSP00000504333.1:n.1494-3850A>G
ENST00000676997.1:c.1566-2250A>G (ACBD5)	ENSP00000503467.1:n.1566-2250A>G
ENST00000677440.1:c.1272-16295A>G (ACBD5)	ENSP00000504580.1:n.1272-16295A>G
XM_005252630.2:c.*29T>C (MASTL)	XP_005252687.1:n.*29T>C
XM_005252631.2:c.*29T>C (MASTL)	XP_005252688.1:n.*29T>C
XM_005252631.4:c.*29T>C (MASTL)	XP_005252688.1:n.*29T>C
XM_005252632.2:c.*29T>C (MASTL)	XP_005252689.1:n.*29T>C
XM_005252632.4:c.*29T>C (MASTL)	XP_005252689.1:n.*29T>C
XM_006717518.2:c.*29T>C (MASTL)	XP_006717581.1:n.*29T>C
XM_006717519.2:c.*29T>C (MASTL)	XP_006717582.1:n.*29T>C
XM_006717519.4:c.*29T>C (MASTL)	XP_006717582.1:n.*29T>C
XM_011519751.1:c.*29T>C (MASTL)	XP_011518053.1:n.*29T>C
XM_011519751.2:c.*29T>C (MASTL)	XP_011518053.1:n.*29T>C
XM_017016852.2:c.*29T>C (MASTL)	XP_016872341.1:n.*29T>C
XM_017016853.2:c.*29T>C (MASTL)	XP_016872342.1:n.*29T>C
XM_017016884.2:c.1791-2250A>G (ACBD5)	XP_016872373.1:n.1791-2250A>G
XM_017016885.2:c.1758-2250A>G (ACBD5)	XP_016872374.1:n.1758-2250A>G
XM_017016887.2:c.1620-2250A>G (ACBD5)	XP_016872376.1:n.1620-2250A>G
XM_017016888.2:c.1599-2250A>G (ACBD5)	XP_016872377.1:n.1599-2250A>G
XM_017016889.2:c.1587-2250A>G (ACBD5)	XP_016872378.1:n.1587-2250A>G
XM_017016890.2:c.1587-2250A>G (ACBD5)	XP_016872379.1:n.1587-2250A>G
XM_017016893.2:c.1554-2250A>G (ACBD5)	XP_016872382.1:n.1554-2250A>G
XM_017016895.2:c.1494-2250A>G (ACBD5)	XP_016872384.1:n.1494-2250A>G
XM_017016896.1:c.1461-2250A>G (ACBD5)	XP_016872385.1:n.1461-2250A>G
XM_017016898.2:c.1362-2250A>G (ACBD5)	XP_016872387.1:n.1362-2250A>G
XM_017016900.1:c.1272-2250A>G (ACBD5)	XP_016872389.1:n.1272-2250A>G
XM_017016901.1:c.1272-2250A>G (ACBD5)	XP_016872390.1:n.1272-2250A>G
XM_017016904.1:c.1239-2250A>G (ACBD5)	XP_016872393.1:n.1239-2250A>G
XM_017016905.1:c.1239-2250A>G (ACBD5)	XP_016872394.1:n.1239-2250A>G
XM_024448243.1:c.*29T>C (MASTL)	XP_024304011.1:n.*29T>C
XM_024448244.1:c.*29T>C (MASTL)	XP_024304012.1:n.*29T>C
XM_024448248.1:c.1395-2250A>G (ACBD5)	XP_024304016.1:n.1395-2250A>G
XR_930523.1:n.2602T>C (MASTL)