Canonical Allele Identifier: CA172982293

Gene: PDGFRL

Linked Data

• dbSNP Id: rs375035205
• MyVariant Identifiers: chr8:g.17461225C>T (hg19) ; chr8:g.17603716C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17603716C>T , CM000670.2:g.17603716C>T	GRCh38
NC_000008.10:g.17461225C>T , CM000670.1:g.17461225C>T	GRCh37
NC_000008.9:g.17505502C>T	NCBI36
NG_023332.1:g.32284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+13951C>T MANE Select	ENSP00000251630.4:n.353+13951C>T
ENST00000673645.1:c.353+13951C>T	ENSP00000501219.1:n.353+13951C>T
ENST00000251630.10:c.353+13951C>T	ENSP00000251630.4:n.353+13951C>T
ENST00000541323.1:c.353+13951C>T	ENSP00000444211.1:n.353+13951C>T
NM_006207.2:c.353+13951C>T	NP_006198.1:n.353+13951C>T
XM_011544558.1:c.353+13951C>T	XP_011542860.1:n.353+13951C>T
NM_001372073.1:c.353+13951C>T MANE Select	NP_001359002.1:n.353+13951C>T