Canonical Allele Identifier: CA381656364

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078962-G-T
• MyVariant Identifiers: chr11:g.68846430G>T (hg19) ; chr11:g.69078962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078962G>T , CM000673.2:g.69078962G>T	GRCh38
NC_000011.9:g.68846430G>T , CM000673.1:g.68846430G>T	GRCh37
NC_000011.8:g.68603006G>T	NCBI36
NG_016153.1:g.35081G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.338G>T	ENSP00000509200.1:p.Arg113Leu
ENST00000294309.8:c.1481G>T MANE Select	ENSP00000294309.3:p.Arg494Leu
ENST00000635811.1:c.1481G>T	ENSP00000490341.1:p.Arg494Leu
ENST00000637084.1:c.338G>T	ENSP00000490615.1:p.Arg113Leu
ENST00000637342.1:c.1481G>T	ENSP00000490171.1:p.Arg494Leu
ENST00000637504.1:c.1481G>T	ENSP00000489759.1:p.Arg494Leu
ENST00000294309.7:c.1481G>T	ENSP00000294309.3:p.Arg494Leu
ENST00000442692.2:n.1074G>T
ENST00000535009.5:n.1290G>T
ENST00000542467.1:c.1481G>T	ENSP00000445551.1:p.Arg494Leu
NM_139075.3:c.1481G>T	NP_620714.2:p.Arg494Leu
XM_005273824.2:c.1478G>T	XP_005273881.1:p.Arg493Leu
XM_005273826.2:c.1226G>T	XP_005273883.1:p.Arg409Leu
XM_005273827.2:c.1481G>T	XP_005273884.1:p.Arg494Leu
XM_005273828.2:c.1481G>T	XP_005273885.1:p.Arg494Leu
XM_005273830.2:c.788G>T	XP_005273887.1:p.Arg263Leu
XM_005273831.2:c.788G>T	XP_005273888.1:p.Arg263Leu
XM_005273832.2:c.758G>T	XP_005273889.1:p.Arg253Leu
XM_006718453.2:c.1481G>T	XP_006718516.1:p.Arg494Leu
XM_006718454.2:c.1481G>T	XP_006718517.1:p.Arg494Leu
XM_006718456.2:c.1481G>T	XP_006718519.1:p.Arg494Leu
XM_011544802.1:c.1241G>T	XP_011543104.1:p.Arg414Leu
XM_011544803.1:c.1481G>T	XP_011543105.1:p.Arg494Leu
XM_011544804.1:c.1481G>T	XP_011543106.1:p.Arg494Leu
XM_011544805.1:c.1481G>T	XP_011543107.1:p.Arg494Leu
XM_011544806.1:c.1481G>T	XP_011543108.1:p.Arg494Leu
XM_011544807.1:c.785G>T	XP_011543109.1:p.Arg262Leu
XM_011544808.1:c.650G>T	XP_011543110.1:p.Arg217Leu
XR_247191.1:n.1582G>T
XM_005273824.4:c.1478G>T	XP_005273881.1:p.Arg493Leu
XM_005273826.4:c.1226G>T	XP_005273883.1:p.Arg409Leu
XM_005273830.4:c.788G>T	XP_005273887.1:p.Arg263Leu
XM_005273831.4:c.788G>T	XP_005273888.1:p.Arg263Leu
XM_005273832.4:c.758G>T	XP_005273889.1:p.Arg253Leu
XM_011544802.3:c.1241G>T	XP_011543104.1:p.Arg414Leu
XM_011544807.3:c.785G>T	XP_011543109.1:p.Arg262Leu
XM_011544808.3:c.650G>T	XP_011543110.1:p.Arg217Leu
XM_017017328.2:c.1312G>T	XP_016872817.1:p.Glu438Ter
XM_017017329.2:c.1309G>T	XP_016872818.1:p.Glu437Ter
XM_017017330.2:c.758G>T	XP_016872819.1:p.Arg253Leu
XM_017017331.2:c.758G>T	XP_016872820.1:p.Arg253Leu
XM_017017332.2:c.572G>T	XP_016872821.1:p.Arg191Leu
XM_017017333.2:c.589G>T	XP_016872822.1:p.Glu197Ter
XM_017017334.2:c.589G>T	XP_016872823.1:p.Glu197Ter
XM_017017335.2:c.589G>T	XP_016872824.1:p.Glu197Ter
XM_017017336.2:c.481G>T	XP_016872825.1:p.Glu161Ter
XM_024448392.1:c.1271G>T	XP_024304160.1:p.Arg424Leu
XM_024448393.1:c.758G>T	XP_024304161.1:p.Arg253Leu
XR_001747789.2:n.1413G>T
XR_001747790.2:n.1413G>T
XR_247191.3:n.1585G>T
NM_139075.4:c.1481G>T MANE Select	NP_620714.2:p.Arg494Leu