Canonical Allele Identifier: CA2570361182

Gene: PHACTR1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12962777T>C , CM000668.2:g.12962777T>C	GRCh38
NC_000006.11:g.12963009T>C , CM000668.1:g.12963009T>C	GRCh37
NC_000006.10:g.13070995T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000687600.1:c.-27+4740T>C	ENSP00000509410.1:n.-27+4740T>C
ENST00000689548.1:c.113-90588T>C	ENSP00000509837.1:n.113-90588T>C
ENST00000692662.1:n.409-90588T>C
ENST00000692995.1:c.-27+5233T>C	ENSP00000509690.1:n.-27+5233T>C
ENST00000693693.1:n.1117-90588T>C
ENST00000332995.12:c.251-90588T>C MANE Select	ENSP00000329880.8:n.251-90588T>C
ENST00000406205.7:c.113-90588T>C	ENSP00000384760.3:n.113-90588T>C
ENST00000482982.2:c.-27+5026T>C	ENSP00000501726.1:n.-27+5026T>C
ENST00000674595.1:c.251-90588T>C	ENSP00000502157.1:n.251-90588T>C
ENST00000674637.1:c.251-90588T>C	ENSP00000501634.1:n.251-90588T>C
ENST00000676159.1:c.251-90588T>C	ENSP00000501921.1:n.251-90588T>C
ENST00000676234.1:c.-27+4740T>C	ENSP00000502037.1:n.-27+4740T>C
ENST00000332995.11:c.251-90588T>C	ENSP00000329880.8:n.251-90588T>C
ENST00000379350.5:c.251-90588T>C	ENSP00000368655.1:n.251-90588T>C
ENST00000406205.6:c.357-90588T>C
ENST00000482982.1:n.393+5026T>C
NM_001242648.1:c.251-90588T>C	NP_001229577.1:n.251-90588T>C
NM_030948.2:c.251-90588T>C	NP_112210.1:n.251-90588T>C
XM_005248933.1:c.251-90588T>C	XP_005248990.1:n.251-90588T>C
XM_005248934.1:c.251-90588T>C	XP_005248991.1:n.251-90588T>C
XM_005248935.3:c.251-90588T>C	XP_005248992.1:n.251-90588T>C
XM_005248936.3:c.-27+4740T>C	XP_005248993.1:n.-27+4740T>C
XM_005248937.2:c.-27+4740T>C	XP_005248994.1:n.-27+4740T>C
XM_011514390.1:c.251-90588T>C	XP_011512692.1:n.251-90588T>C
XM_011514391.1:c.40+5026T>C	XP_011512693.1:n.40+5026T>C
XM_011514392.1:c.-27+5233T>C	XP_011512694.1:n.-27+5233T>C
NM_001242648.2:c.251-90588T>C	NP_001229577.1:n.251-90588T>C
NM_001322308.1:c.251-90588T>C	NP_001309237.1:n.251-90588T>C
NM_001322309.1:c.251-90588T>C	NP_001309238.1:n.251-90588T>C
NM_001322310.1:c.251-90588T>C	NP_001309239.1:n.251-90588T>C
NM_001322311.1:c.-27+5233T>C	NP_001309240.1:n.-27+5233T>C
NM_001322312.1:c.-27+4740T>C	NP_001309241.1:n.-27+4740T>C
NM_001322313.1:c.-27+4740T>C	NP_001309242.1:n.-27+4740T>C
NM_030948.3:c.251-90588T>C	NP_112210.1:n.251-90588T>C
XM_005248934.3:c.251-90588T>C	XP_005248991.1:n.251-90588T>C
XM_017010454.2:c.251-90588T>C	XP_016865943.1:n.251-90588T>C
XM_017010455.2:c.251-90588T>C	XP_016865944.1:n.251-90588T>C
XM_017010456.2:c.251-90588T>C	XP_016865945.1:n.251-90588T>C
XM_017010457.2:c.251-90588T>C	XP_016865946.1:n.251-90588T>C
XM_017010459.2:c.251-90588T>C	XP_016865948.1:n.251-90588T>C
XM_017010460.2:c.251-90588T>C	XP_016865949.1:n.251-90588T>C
XM_017010461.2:c.251-90588T>C	XP_016865950.1:n.251-90588T>C
XM_017010462.2:c.251-90588T>C	XP_016865951.1:n.251-90588T>C
XM_017010465.2:c.-27+4740T>C	XP_016865954.1:n.-27+4740T>C
XM_017010466.2:c.-27+5233T>C	XP_016865955.1:n.-27+5233T>C
XM_017010467.2:c.-27+4740T>C	XP_016865956.1:n.-27+4740T>C
XM_017010469.2:c.-27+5233T>C	XP_016865958.1:n.-27+5233T>C
NM_001242648.3:c.251-90588T>C	NP_001229577.1:n.251-90588T>C
NM_001322308.2:c.251-90588T>C	NP_001309237.1:n.251-90588T>C
NM_001322309.2:c.251-90588T>C	NP_001309238.1:n.251-90588T>C
NM_001322312.2:c.-27+4740T>C	NP_001309241.1:n.-27+4740T>C
NM_001374581.1:c.251-90588T>C	NP_001361510.1:n.251-90588T>C
NM_001374582.1:c.251-90588T>C	NP_001361511.1:n.251-90588T>C
NM_001374583.1:c.-27+4740T>C	NP_001361512.1:n.-27+4740T>C
NM_030948.5:c.251-90588T>C	NP_112210.1:n.251-90588T>C
NM_001242648.4:c.251-90588T>C	NP_001229577.1:n.251-90588T>C
NM_001322308.3:c.251-90588T>C	NP_001309237.1:n.251-90588T>C
NM_001322309.3:c.251-90588T>C	NP_001309238.1:n.251-90588T>C
NM_001322310.2:c.251-90588T>C	NP_001309239.1:n.251-90588T>C
NM_001322311.2:c.-27+5233T>C	NP_001309240.1:n.-27+5233T>C
NM_001322312.3:c.-27+4740T>C	NP_001309241.1:n.-27+4740T>C
NM_001322313.2:c.-27+4740T>C	NP_001309242.1:n.-27+4740T>C
NM_001374581.2:c.251-90588T>C	NP_001361510.1:n.251-90588T>C
NM_001374583.2:c.-27+4740T>C	NP_001361512.1:n.-27+4740T>C
NM_030948.6:c.251-90588T>C MANE Select	NP_112210.1:n.251-90588T>C