Canonical Allele Identifier: CA500842850

Gene: COL1A1

Linked Data

• dbSNP Id: rs1454012783
• MyVariant Identifiers: chr17:g.48262917A>T (hg19) ; chr17:g.50185556A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185556A>T , CM000679.2:g.50185556A>T	GRCh38
NC_000017.10:g.48262917A>T , CM000679.1:g.48262917A>T	GRCh37
NC_000017.9:g.45617916A>T	NCBI36
NG_007400.1:g.21084T>A , LRG_1:g.21084T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4341T>A MANE Select	ENSP00000225964.6:p.Val1447=
ENST00000225964.9:c.4341T>A	ENSP00000225964.5:p.Val1447=
NM_000088.3:c.4341T>A , LRG_1t1:c.4341T>A	NP_000079.2:p.Val1447=
XM_005257058.3:c.4071T>A	XP_005257115.2:p.Val1357=
XM_005257059.3:c.3423T>A	XP_005257116.2:p.Val1141=
XM_011524341.1:c.4143T>A	XP_011522643.1:p.Val1381=
XM_005257058.4:c.4071T>A	XP_005257115.2:p.Val1357=
XM_005257059.4:c.3423T>A	XP_005257116.2:p.Val1141=
NM_000088.4:c.4341T>A MANE Select	NP_000079.2:p.Val1447=