Canonical Allele Identifier: CA381655930

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078764-C-T
• MyVariant Identifiers: chr11:g.68846232C>T (hg19) ; chr11:g.69078764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078764C>T , CM000673.2:g.69078764C>T	GRCh38
NC_000011.9:g.68846232C>T , CM000673.1:g.68846232C>T	GRCh37
NC_000011.8:g.68602808C>T	NCBI36
NG_016153.1:g.34883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.238C>T	ENSP00000509200.1:p.Pro80Ser
ENST00000294309.8:c.1381C>T MANE Select	ENSP00000294309.3:p.Pro461Ser
ENST00000635811.1:c.1381C>T	ENSP00000490341.1:p.Pro461Ser
ENST00000637084.1:c.238C>T	ENSP00000490615.1:p.Pro80Ser
ENST00000637342.1:c.1381C>T	ENSP00000490171.1:p.Pro461Ser
ENST00000637504.1:c.1381C>T	ENSP00000489759.1:p.Pro461Ser
ENST00000294309.7:c.1381C>T	ENSP00000294309.3:p.Pro461Ser
ENST00000442692.2:n.974C>T
ENST00000535009.5:n.1190C>T
ENST00000542467.1:c.1381C>T	ENSP00000445551.1:p.Pro461Ser
NM_139075.3:c.1381C>T	NP_620714.2:p.Pro461Ser
XM_005273824.2:c.1378C>T	XP_005273881.1:p.Pro460Ser
XM_005273826.2:c.1126C>T	XP_005273883.1:p.Pro376Ser
XM_005273827.2:c.1381C>T	XP_005273884.1:p.Pro461Ser
XM_005273828.2:c.1381C>T	XP_005273885.1:p.Pro461Ser
XM_005273830.2:c.688C>T	XP_005273887.1:p.Pro230Ser
XM_005273831.2:c.688C>T	XP_005273888.1:p.Pro230Ser
XM_005273832.2:c.658C>T	XP_005273889.1:p.Pro220Ser
XM_006718453.2:c.1381C>T	XP_006718516.1:p.Pro461Ser
XM_006718454.2:c.1381C>T	XP_006718517.1:p.Pro461Ser
XM_006718456.2:c.1381C>T	XP_006718519.1:p.Pro461Ser
XM_011544802.1:c.1141C>T	XP_011543104.1:p.Pro381Ser
XM_011544803.1:c.1381C>T	XP_011543105.1:p.Pro461Ser
XM_011544804.1:c.1381C>T	XP_011543106.1:p.Pro461Ser
XM_011544805.1:c.1381C>T	XP_011543107.1:p.Pro461Ser
XM_011544806.1:c.1381C>T	XP_011543108.1:p.Pro461Ser
XM_011544807.1:c.685C>T	XP_011543109.1:p.Pro229Ser
XM_011544808.1:c.550C>T	XP_011543110.1:p.Pro184Ser
XR_247191.1:n.1482C>T
XM_005273824.4:c.1378C>T	XP_005273881.1:p.Pro460Ser
XM_005273826.4:c.1126C>T	XP_005273883.1:p.Pro376Ser
XM_005273830.4:c.688C>T	XP_005273887.1:p.Pro230Ser
XM_005273831.4:c.688C>T	XP_005273888.1:p.Pro230Ser
XM_005273832.4:c.658C>T	XP_005273889.1:p.Pro220Ser
XM_011544802.3:c.1141C>T	XP_011543104.1:p.Pro381Ser
XM_011544807.3:c.685C>T	XP_011543109.1:p.Pro229Ser
XM_011544808.3:c.550C>T	XP_011543110.1:p.Pro184Ser
XM_017017328.2:c.1212C>T	XP_016872817.1:p.Cys404=
XM_017017329.2:c.1209C>T	XP_016872818.1:p.Cys403=
XM_017017330.2:c.658C>T	XP_016872819.1:p.Pro220Ser
XM_017017331.2:c.658C>T	XP_016872820.1:p.Pro220Ser
XM_017017332.2:c.472C>T	XP_016872821.1:p.Pro158Ser
XM_017017333.2:c.489C>T	XP_016872822.1:p.Cys163=
XM_017017334.2:c.489C>T	XP_016872823.1:p.Cys163=
XM_017017335.2:c.489C>T	XP_016872824.1:p.Cys163=
XM_017017336.2:c.381C>T	XP_016872825.1:p.Cys127=
XM_024448392.1:c.1171C>T	XP_024304160.1:p.Pro391Ser
XM_024448393.1:c.658C>T	XP_024304161.1:p.Pro220Ser
XR_001747789.2:n.1313C>T
XR_001747790.2:n.1313C>T
XR_247191.3:n.1485C>T
NM_139075.4:c.1381C>T MANE Select	NP_620714.2:p.Pro461Ser