Canonical Allele Identifier: CA14568984

Gene: MPPE1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11907375A>G , CM000680.2:g.11907375A>G	GRCh38
NC_000018.9:g.11907374A>G , CM000680.1:g.11907374A>G	GRCh37
NC_000018.8:g.11897374A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588072.6:c.-200+826T>C MANE Select	ENSP00000465894.1:n.-200+826T>C
ENST00000309976.13:c.-93+826T>C	ENSP00000311200.9:n.-93+826T>C
ENST00000317235.11:c.-200+826T>C	ENSP00000327257.6:n.-200+826T>C
ENST00000317251.8:c.-359+826T>C	ENSP00000312935.4:n.-359+826T>C
ENST00000344987.11:c.-200+826T>C	ENSP00000339423.7:n.-200+826T>C
ENST00000496196.5:c.-200+826T>C	ENSP00000433950.1:n.-200+826T>C
ENST00000586204.1:n.381+521T>C
ENST00000586844.5:c.-242+826T>C	ENSP00000468269.1:n.-242+826T>C
ENST00000587381.5:n.147+826T>C
ENST00000588072.5:c.-200+826T>C	ENSP00000465894.1:n.-200+826T>C
ENST00000588103.5:c.-292+826T>C	ENSP00000468065.1:n.-292+826T>C
ENST00000588186.5:c.-416+826T>C	ENSP00000467993.1:n.-416+826T>C
ENST00000588191.5:c.-511+826T>C	ENSP00000467698.1:n.-511+826T>C
ENST00000588939.1:n.115+826T>C
ENST00000589267.5:c.-295+826T>C	ENSP00000465318.1:n.-295+826T>C
ENST00000589731.5:n.115+826T>C
ENST00000589829.5:n.115+826T>C
ENST00000590302.5:n.147+826T>C
ENST00000590501.5:c.-429+826T>C	ENSP00000468639.1:n.-429+826T>C
ENST00000591667.5:n.115+826T>C
ENST00000592977.5:c.-93+826T>C	ENSP00000468606.1:n.-93+826T>C
ENST00000593001.5:c.-200+826T>C	ENSP00000467599.1:n.-200+826T>C
NM_001242904.1:c.-93+826T>C	NP_001229833.1:n.-93+826T>C
NM_023075.5:c.-200+826T>C	NP_075563.3:n.-200+826T>C
NR_040241.1:n.597+826T>C
NR_040242.1:n.597+826T>C
NR_040243.1:n.597+826T>C
XM_006722340.2:c.-200+826T>C	XP_006722403.1:n.-200+826T>C
XM_006722341.2:c.-511+826T>C	XP_006722404.1:n.-511+826T>C
XM_006722342.2:c.-295+826T>C	XP_006722405.1:n.-295+826T>C
XM_006722343.2:c.-416+826T>C	XP_006722406.1:n.-416+826T>C
XM_006722345.2:c.-93+826T>C	XP_006722408.1:n.-93+826T>C
XM_006722346.1:c.-93+826T>C	XP_006722409.1:n.-93+826T>C
XM_006722347.2:c.-200+826T>C	XP_006722410.1:n.-200+826T>C
XM_006722348.1:c.-200+826T>C	XP_006722411.1:n.-200+826T>C
XM_011525731.1:c.-783+826T>C	XP_011524033.1:n.-783+826T>C
XM_011525732.1:c.-200+826T>C	XP_011524034.1:n.-200+826T>C
XM_011525733.1:c.-200+826T>C	XP_011524035.1:n.-200+826T>C
XM_011525734.1:c.-200+826T>C	XP_011524036.1:n.-200+826T>C
XR_935068.1:n.150+826T>C
NM_001319154.1:c.-200+826T>C	NP_001306083.1:n.-200+826T>C
NM_001330563.1:c.-200+826T>C	NP_001317492.1:n.-200+826T>C
NR_040242.3:n.597+826T>C
XM_006722340.3:c.-200+826T>C	XP_006722403.1:n.-200+826T>C
XM_006722341.4:c.-511+826T>C	XP_006722404.1:n.-511+826T>C
XM_006722342.4:c.-295+826T>C	XP_006722405.1:n.-295+826T>C
XM_006722343.3:c.-416+826T>C	XP_006722406.1:n.-416+826T>C
XM_006722345.4:c.-93+826T>C	XP_006722408.1:n.-93+826T>C
XM_006722346.3:c.-93+826T>C	XP_006722409.1:n.-93+826T>C
XM_006722348.2:c.-200+826T>C	XP_006722411.1:n.-200+826T>C
XM_011525731.3:c.-783+826T>C	XP_011524033.1:n.-783+826T>C
XM_011525732.2:c.-200+826T>C	XP_011524034.1:n.-200+826T>C
XM_011525734.2:c.-200+826T>C	XP_011524036.1:n.-200+826T>C
XM_017025920.2:c.-688+826T>C	XP_016881409.1:n.-688+826T>C
XM_017025922.2:c.-511+826T>C	XP_016881411.1:n.-511+826T>C
XM_017025923.2:c.-783+826T>C	XP_016881412.1:n.-783+826T>C
XM_017025924.2:c.-295+826T>C	XP_016881413.1:n.-295+826T>C
XM_017025925.1:c.-416+826T>C	XP_016881414.1:n.-416+826T>C
XM_017025926.2:c.-688+826T>C	XP_016881415.1:n.-688+826T>C
XM_017025927.2:c.-295+826T>C	XP_016881416.1:n.-295+826T>C
XM_017025928.1:c.-416+826T>C	XP_016881417.1:n.-416+826T>C
XM_017025929.2:c.-93+826T>C	XP_016881418.1:n.-93+826T>C
XM_017025930.2:c.-93+826T>C	XP_016881419.1:n.-93+826T>C
XM_017025931.1:c.-200+826T>C	XP_016881420.1:n.-200+826T>C
XM_024451237.1:c.-295+826T>C	XP_024307005.1:n.-295+826T>C
XR_001753261.1:n.461+826T>C
XR_001753262.2:n.461+826T>C
XR_001753263.2:n.150+826T>C
XR_001753264.2:n.147+826T>C
XR_001753265.2:n.150+826T>C
XR_002958184.1:n.150+826T>C
XR_935068.3:n.147+826T>C
NM_001242904.2:c.-93+826T>C	NP_001229833.1:n.-93+826T>C
NM_001319154.2:c.-200+826T>C	NP_001306083.1:n.-200+826T>C
NM_001330563.2:c.-200+826T>C	NP_001317492.1:n.-200+826T>C
NM_023075.6:c.-200+826T>C MANE Select	NP_075563.3:n.-200+826T>C
NR_040241.2:n.117+826T>C
NR_040242.4:n.117+826T>C
NR_040243.2:n.117+826T>C