Canonical Allele Identifier: CA400221060

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 447136
• ClinVar RCV Id: RCV000517817 ; RCV002264705
• dbSNP Id: rs1555574249
• gnomAD v4: 17-50195966-C-A
• MyVariant Identifiers: chr17:g.48273327C>A (hg19) ; chr17:g.50195966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195966C>A , CM000679.2:g.50195966C>A	GRCh38
NC_000017.10:g.48273327C>A , CM000679.1:g.48273327C>A	GRCh37
NC_000017.9:g.45628326C>A	NCBI36
NG_007400.1:g.10674G>T , LRG_1:g.10674G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1013G>T MANE Select	ENSP00000225964.6:p.Gly338Val
ENST00000225964.9:c.1013G>T	ENSP00000225964.5:p.Gly338Val
NM_000088.3:c.1013G>T , LRG_1t1:c.1013G>T	NP_000079.2:p.Gly338Val
XM_005257058.3:c.1013G>T	XP_005257115.2:p.Gly338Val
XM_005257059.3:c.957+348G>T	XP_005257116.2:n.957+348G>T
XM_011524341.1:c.957+348G>T	XP_011522643.1:n.957+348G>T
XM_005257058.4:c.1013G>T	XP_005257115.2:p.Gly338Val
XM_005257059.4:c.957+348G>T	XP_005257116.2:n.957+348G>T
NM_000088.4:c.1013G>T MANE Select	NP_000079.2:p.Gly338Val