Canonical Allele Identifier: CA772794597

Gene: COL1A1

Linked Data

• dbSNP Id: rs1168512086
• gnomAD v4: 17-50196978-T-TG
• MyVariant Identifiers: chr17:g.48274339_48274340insG (hg19) ; chr17:g.50196978_50196979insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196982dup , CM000679.2:g.50196982dup	GRCh38
NC_000017.10:g.48274343dup , CM000679.1:g.48274343dup	GRCh37
NC_000017.9:g.45629342dup	NCBI36
NG_007400.1:g.9661dup , LRG_1:g.9661dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.804+31dup MANE Select	ENSP00000225964.6:n.804+31dup
ENST00000225964.9:c.804+31dup	ENSP00000225964.5:n.804+31dup
ENST00000495677.1:n.531+31dup
NM_000088.3:c.804+31dup , LRG_1t1:c.804+31dup	NP_000079.2:n.804+31dup
XM_005257058.3:c.804+31dup	XP_005257115.2:n.804+31dup
XM_005257059.3:c.804+31dup	XP_005257116.2:n.804+31dup
XM_011524341.1:c.804+31dup	XP_011522643.1:n.804+31dup
XM_005257058.4:c.804+31dup	XP_005257115.2:n.804+31dup
XM_005257059.4:c.804+31dup	XP_005257116.2:n.804+31dup
NM_000088.4:c.804+31dup MANE Select	NP_000079.2:n.804+31dup