Canonical Allele Identifier: CA381656258

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078937-C-T
• MyVariant Identifiers: chr11:g.68846405C>T (hg19) ; chr11:g.69078937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078937C>T , CM000673.2:g.69078937C>T	GRCh38
NC_000011.9:g.68846405C>T , CM000673.1:g.68846405C>T	GRCh37
NC_000011.8:g.68602981C>T	NCBI36
NG_016153.1:g.35056C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000692585.1:c.313C>T	ENSP00000509200.1:p.Leu105Phe
ENST00000294309.8:c.1456C>T MANE Select	ENSP00000294309.3:p.Leu486Phe
ENST00000635811.1:c.1456C>T	ENSP00000490341.1:p.Leu486Phe
ENST00000637084.1:c.313C>T	ENSP00000490615.1:p.Leu105Phe
ENST00000637342.1:c.1456C>T	ENSP00000490171.1:p.Leu486Phe
ENST00000637504.1:c.1456C>T	ENSP00000489759.1:p.Leu486Phe
ENST00000294309.7:c.1456C>T	ENSP00000294309.3:p.Leu486Phe
ENST00000442692.2:n.1049C>T
ENST00000535009.5:n.1265C>T
ENST00000542467.1:c.1456C>T	ENSP00000445551.1:p.Leu486Phe
NM_139075.3:c.1456C>T	NP_620714.2:p.Leu486Phe
XM_005273824.2:c.1453C>T	XP_005273881.1:p.Leu485Phe
XM_005273826.2:c.1201C>T	XP_005273883.1:p.Leu401Phe
XM_005273827.2:c.1456C>T	XP_005273884.1:p.Leu486Phe
XM_005273828.2:c.1456C>T	XP_005273885.1:p.Leu486Phe
XM_005273830.2:c.763C>T	XP_005273887.1:p.Leu255Phe
XM_005273831.2:c.763C>T	XP_005273888.1:p.Leu255Phe
XM_005273832.2:c.733C>T	XP_005273889.1:p.Leu245Phe
XM_006718453.2:c.1456C>T	XP_006718516.1:p.Leu486Phe
XM_006718454.2:c.1456C>T	XP_006718517.1:p.Leu486Phe
XM_006718456.2:c.1456C>T	XP_006718519.1:p.Leu486Phe
XM_011544802.1:c.1216C>T	XP_011543104.1:p.Leu406Phe
XM_011544803.1:c.1456C>T	XP_011543105.1:p.Leu486Phe
XM_011544804.1:c.1456C>T	XP_011543106.1:p.Leu486Phe
XM_011544805.1:c.1456C>T	XP_011543107.1:p.Leu486Phe
XM_011544806.1:c.1456C>T	XP_011543108.1:p.Leu486Phe
XM_011544807.1:c.760C>T	XP_011543109.1:p.Leu254Phe
XM_011544808.1:c.625C>T	XP_011543110.1:p.Leu209Phe
XR_247191.1:n.1557C>T
XM_005273824.4:c.1453C>T	XP_005273881.1:p.Leu485Phe
XM_005273826.4:c.1201C>T	XP_005273883.1:p.Leu401Phe
XM_005273830.4:c.763C>T	XP_005273887.1:p.Leu255Phe
XM_005273831.4:c.763C>T	XP_005273888.1:p.Leu255Phe
XM_005273832.4:c.733C>T	XP_005273889.1:p.Leu245Phe
XM_011544802.3:c.1216C>T	XP_011543104.1:p.Leu406Phe
XM_011544807.3:c.760C>T	XP_011543109.1:p.Leu254Phe
XM_011544808.3:c.625C>T	XP_011543110.1:p.Leu209Phe
XM_017017328.2:c.1287C>T	XP_016872817.1:p.Cys429=
XM_017017329.2:c.1284C>T	XP_016872818.1:p.Cys428=
XM_017017330.2:c.733C>T	XP_016872819.1:p.Leu245Phe
XM_017017331.2:c.733C>T	XP_016872820.1:p.Leu245Phe
XM_017017332.2:c.547C>T	XP_016872821.1:p.Leu183Phe
XM_017017333.2:c.564C>T	XP_016872822.1:p.Cys188=
XM_017017334.2:c.564C>T	XP_016872823.1:p.Cys188=
XM_017017335.2:c.564C>T	XP_016872824.1:p.Cys188=
XM_017017336.2:c.456C>T	XP_016872825.1:p.Cys152=
XM_024448392.1:c.1246C>T	XP_024304160.1:p.Leu416Phe
XM_024448393.1:c.733C>T	XP_024304161.1:p.Leu245Phe
XR_001747789.2:n.1388C>T
XR_001747790.2:n.1388C>T
XR_247191.3:n.1560C>T
NM_139075.4:c.1456C>T MANE Select	NP_620714.2:p.Leu486Phe