Canonical Allele Identifier: CA891152433

Gene: DNM3 PIGC

Linked Data

• dbSNP Id: rs1268365093
• MyVariant Identifiers: chr1:g.172346583A>C (hg19) ; chr1:g.172377443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.172377443A>C , CM000663.2:g.172377443A>C	GRCh38
NC_000001.10:g.172346583A>C , CM000663.1:g.172346583A>C	GRCh37
NC_000001.9:g.170613206A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000485254.3:c.1912-1575A>C (DNM3)	ENSP00000429165.2:n.1912-1575A>C
ENST00000627582.3:c.1894-1575A>C (DNM3) MANE Select	ENSP00000486701.1:n.1894-1575A>C
ENST00000355305.9:c.1912-1575A>C (DNM3)	ENSP00000347457.5:n.1912-1575A>C
ENST00000367731.5:c.1882-1575A>C (DNM3)	ENSP00000356705.1:n.1882-1575A>C
ENST00000465374.1:n.165-807T>G (PIGC)
ENST00000489002.5:n.259+688T>G (PIGC)
ENST00000627582.2:c.1894-1575A>C (DNM3)	ENSP00000486701.1:n.1894-1575A>C
NM_001136127.2:c.1882-1575A>C (DNM3)	NP_001129599.1:n.1882-1575A>C
NM_015569.4:c.1894-1575A>C (DNM3)	NP_056384.2:n.1894-1575A>C
XM_005245079.1:c.1924-1575A>C (DNM3)	XP_005245136.1:n.1924-1575A>C
XM_005245080.1:c.1912-1575A>C (DNM3)	XP_005245137.1:n.1912-1575A>C
XM_005245081.1:c.1924-1575A>C (DNM3)	XP_005245138.1:n.1924-1575A>C
XM_005245082.3:c.1594-1575A>C (DNM3)	XP_005245139.1:n.1594-1575A>C
XM_011509400.1:c.1924-1575A>C (DNM3)	XP_011507702.1:n.1924-1575A>C
XM_011509401.1:c.1924-1575A>C (DNM3)	XP_011507703.1:n.1924-1575A>C
XR_426865.1:n.32-807T>G
NM_001350204.1:c.1912-1575A>C (DNM3)	NP_001337133.1:n.1912-1575A>C
NM_001350206.1:c.1912-1575A>C (DNM3)	NP_001337135.1:n.1912-1575A>C
NR_146559.1:n.2107-1575A>C (DNM3)
XM_017000976.1:c.2068-1575A>C (DNM3)	XP_016856465.1:n.2068-1575A>C
XM_017000977.1:c.2056-1575A>C (DNM3)	XP_016856466.1:n.2056-1575A>C
XM_017000978.1:c.2038-1575A>C (DNM3)	XP_016856467.1:n.2038-1575A>C
XM_017000979.1:c.2068-1575A>C (DNM3)	XP_016856468.1:n.2068-1575A>C
XM_017000980.1:c.1939-1575A>C (DNM3)	XP_016856469.1:n.1939-1575A>C
XM_017000982.2:c.1912-1575A>C (DNM3)	XP_016856471.1:n.1912-1575A>C
XM_017000983.1:c.1894-1575A>C (DNM3)	XP_016856472.1:n.1894-1575A>C
XM_017000984.1:c.1882-1575A>C (DNM3)	XP_016856473.1:n.1882-1575A>C
XM_017000985.1:c.1882-1575A>C (DNM3)	XP_016856474.1:n.1882-1575A>C
XM_017000986.1:c.1783-1575A>C (DNM3)	XP_016856475.1:n.1783-1575A>C
XM_017000987.1:c.1594-1575A>C (DNM3)	XP_016856476.1:n.1594-1575A>C
XR_001737107.1:n.1964-1575A>C (DNM3)
XR_001737108.1:n.2102-1575A>C (DNM3)
XR_001737110.1:n.1946-1575A>C (DNM3)
XR_001737111.1:n.1814-1575A>C (DNM3)
NM_015569.5:c.1894-1575A>C (DNM3) MANE Select	NP_056384.2:n.1894-1575A>C
NM_001136127.3:c.1882-1575A>C (DNM3)	NP_001129599.1:n.1882-1575A>C
NM_001350204.2:c.1912-1575A>C (DNM3)	NP_001337133.1:n.1912-1575A>C
NM_001350206.2:c.1912-1575A>C (DNM3)	NP_001337135.1:n.1912-1575A>C
NR_146559.2:n.2087-1575A>C (DNM3)