Canonical Allele Identifier: CA412842042

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48369776T>G (hg19) ; chrX:g.48511388T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511388T>G , CM000685.2:g.48511388T>G	GRCh38
NC_000023.10:g.48369776T>G , CM000685.1:g.48369776T>G	GRCh37
NC_000023.9:g.48254720T>G	NCBI36
NG_009278.1:g.7406T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367574.9:c.230T>G	ENSP00000356546.6:p.Leu77Arg
ENST00000537758.6:c.230T>G	ENSP00000446401.3:p.Leu77Arg
ENST00000682661.1:n.389T>G
ENST00000683923.1:c.230T>G	ENSP00000506737.1:p.Leu77Arg
ENST00000684722.1:n.412T>G
ENST00000326194.11:c.230T>G MANE Select	ENSP00000322304.6:p.Leu77Arg
ENST00000485288.7:c.159T>G	ENSP00000420445.3:p.Ala53=
ENST00000326194.10:c.230T>G	ENSP00000322304.6:p.Leu77Arg
ENST00000355092.4:c.95T>G	ENSP00000347207.4:p.Leu32Arg
ENST00000355961.8:c.230T>G	ENSP00000348233.4:p.Leu77Arg
ENST00000359882.8:c.230T>G	ENSP00000352946.4:p.Leu77Arg
ENST00000361988.7:c.230T>G	ENSP00000354978.3:p.Leu77Arg
ENST00000367574.8:c.230T>G	ENSP00000356546.5:p.Leu77Arg
ENST00000470275.2:c.159T>G	ENSP00000418644.2:p.Ala53=
ENST00000472520.5:c.137-504T>G	ENSP00000419858.1:n.137-504T>G
ENST00000485288.6:c.351T>G	ENSP00000420445.2:p.Ala117=
ENST00000489940.5:c.230T>G	ENSP00000419212.1:p.Leu77Arg
ENST00000491243.5:n.269T>G
ENST00000528612.5:c.159T>G	ENSP00000431224.1:p.Ala53=
ENST00000537758.5:c.230T>G	ENSP00000446401.2:p.Leu77Arg
NM_001282167.1:c.17T>G	NP_001269096.1:p.Leu6Arg
NM_022825.3:c.230T>G	NP_073736.2:p.Leu77Arg
NM_203473.2:c.230T>G	NP_982299.1:p.Leu77Arg
NM_203474.1:c.230T>G	NP_982300.1:p.Leu77Arg
NM_203475.2:c.230T>G	NP_982301.1:p.Leu77Arg
XM_005272635.1:c.569T>G	XP_005272692.1:p.Leu190Arg
XM_005272636.1:c.569T>G	XP_005272693.1:p.Leu190Arg
XM_005272637.1:c.482T>G	XP_005272694.1:p.Leu161Arg
XM_006724544.2:c.335T>G	XP_006724607.1:p.Leu112Arg
XM_006724545.2:c.281T>G	XP_006724608.1:p.Leu94Arg
XM_006724546.2:c.230T>G	XP_006724609.1:p.Leu77Arg
XM_006724547.1:c.17T>G	XP_006724610.1:p.Leu6Arg
XM_011543948.1:c.17T>G	XP_011542250.1:p.Leu6Arg
XM_024452425.1:c.569T>G	XP_024308193.1:p.Leu190Arg
NM_001282167.2:c.17T>G	NP_001269096.1:p.Leu6Arg
NM_022825.4:c.230T>G	NP_073736.2:p.Leu77Arg
NM_203473.3:c.230T>G	NP_982299.1:p.Leu77Arg
NM_203475.3:c.230T>G MANE Select	NP_982301.1:p.Leu77Arg