Canonical Allele Identifier: CA381656184

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078923-T-A
• MyVariant Identifiers: chr11:g.68846391T>A (hg19) ; chr11:g.69078923T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078923T>A , CM000673.2:g.69078923T>A	GRCh38
NC_000011.9:g.68846391T>A , CM000673.1:g.68846391T>A	GRCh37
NC_000011.8:g.68602967T>A	NCBI36
NG_016153.1:g.35042T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.299T>A	ENSP00000509200.1:p.Leu100Gln
ENST00000294309.8:c.1442T>A MANE Select	ENSP00000294309.3:p.Leu481Gln
ENST00000635811.1:c.1442T>A	ENSP00000490341.1:p.Leu481Gln
ENST00000637084.1:c.299T>A	ENSP00000490615.1:p.Leu100Gln
ENST00000637342.1:c.1442T>A	ENSP00000490171.1:p.Leu481Gln
ENST00000637504.1:c.1442T>A	ENSP00000489759.1:p.Leu481Gln
ENST00000294309.7:c.1442T>A	ENSP00000294309.3:p.Leu481Gln
ENST00000442692.2:n.1035T>A
ENST00000535009.5:n.1251T>A
ENST00000542467.1:c.1442T>A	ENSP00000445551.1:p.Leu481Gln
NM_139075.3:c.1442T>A	NP_620714.2:p.Leu481Gln
XM_005273824.2:c.1439T>A	XP_005273881.1:p.Leu480Gln
XM_005273826.2:c.1187T>A	XP_005273883.1:p.Leu396Gln
XM_005273827.2:c.1442T>A	XP_005273884.1:p.Leu481Gln
XM_005273828.2:c.1442T>A	XP_005273885.1:p.Leu481Gln
XM_005273830.2:c.749T>A	XP_005273887.1:p.Leu250Gln
XM_005273831.2:c.749T>A	XP_005273888.1:p.Leu250Gln
XM_005273832.2:c.719T>A	XP_005273889.1:p.Leu240Gln
XM_006718453.2:c.1442T>A	XP_006718516.1:p.Leu481Gln
XM_006718454.2:c.1442T>A	XP_006718517.1:p.Leu481Gln
XM_006718456.2:c.1442T>A	XP_006718519.1:p.Leu481Gln
XM_011544802.1:c.1202T>A	XP_011543104.1:p.Leu401Gln
XM_011544803.1:c.1442T>A	XP_011543105.1:p.Leu481Gln
XM_011544804.1:c.1442T>A	XP_011543106.1:p.Leu481Gln
XM_011544805.1:c.1442T>A	XP_011543107.1:p.Leu481Gln
XM_011544806.1:c.1442T>A	XP_011543108.1:p.Leu481Gln
XM_011544807.1:c.746T>A	XP_011543109.1:p.Leu249Gln
XM_011544808.1:c.611T>A	XP_011543110.1:p.Leu204Gln
XR_247191.1:n.1543T>A
XM_005273824.4:c.1439T>A	XP_005273881.1:p.Leu480Gln
XM_005273826.4:c.1187T>A	XP_005273883.1:p.Leu396Gln
XM_005273830.4:c.749T>A	XP_005273887.1:p.Leu250Gln
XM_005273831.4:c.749T>A	XP_005273888.1:p.Leu250Gln
XM_005273832.4:c.719T>A	XP_005273889.1:p.Leu240Gln
XM_011544802.3:c.1202T>A	XP_011543104.1:p.Leu401Gln
XM_011544807.3:c.746T>A	XP_011543109.1:p.Leu249Gln
XM_011544808.3:c.611T>A	XP_011543110.1:p.Leu204Gln
XM_017017328.2:c.1273T>A	XP_016872817.1:p.Cys425Ser
XM_017017329.2:c.1270T>A	XP_016872818.1:p.Cys424Ser
XM_017017330.2:c.719T>A	XP_016872819.1:p.Leu240Gln
XM_017017331.2:c.719T>A	XP_016872820.1:p.Leu240Gln
XM_017017332.2:c.533T>A	XP_016872821.1:p.Leu178Gln
XM_017017333.2:c.550T>A	XP_016872822.1:p.Cys184Ser
XM_017017334.2:c.550T>A	XP_016872823.1:p.Cys184Ser
XM_017017335.2:c.550T>A	XP_016872824.1:p.Cys184Ser
XM_017017336.2:c.442T>A	XP_016872825.1:p.Cys148Ser
XM_024448392.1:c.1232T>A	XP_024304160.1:p.Leu411Gln
XM_024448393.1:c.719T>A	XP_024304161.1:p.Leu240Gln
XR_001747789.2:n.1374T>A
XR_001747790.2:n.1374T>A
XR_247191.3:n.1546T>A
NM_139075.4:c.1442T>A MANE Select	NP_620714.2:p.Leu481Gln