Canonical Allele Identifier: CA172982771

Gene: PDGFRL

Linked Data

• dbSNP Id: rs138460002
• gnomAD v2: 8-17461632-T-C
• gnomAD v3: 8-17604123-T-C
• gnomAD v4: 8-17604123-T-C
• MyVariant Identifiers: chr8:g.17461632T>C (hg19) ; chr8:g.17604123T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17604123T>C , CM000670.2:g.17604123T>C	GRCh38
NC_000008.10:g.17461632T>C , CM000670.1:g.17461632T>C	GRCh37
NC_000008.9:g.17505909T>C	NCBI36
NG_023332.1:g.32691T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251630.11:c.353+14358T>C MANE Select	ENSP00000251630.4:n.353+14358T>C
ENST00000673645.1:c.353+14358T>C	ENSP00000501219.1:n.353+14358T>C
ENST00000251630.10:c.353+14358T>C	ENSP00000251630.4:n.353+14358T>C
ENST00000541323.1:c.353+14358T>C	ENSP00000444211.1:n.353+14358T>C
NM_006207.2:c.353+14358T>C	NP_006198.1:n.353+14358T>C
XM_011544558.1:c.353+14358T>C	XP_011542860.1:n.353+14358T>C
NM_001372073.1:c.353+14358T>C MANE Select	NP_001359002.1:n.353+14358T>C