Canonical Allele Identifier: CA291542757

Gene: COL1A1

Linked Data

• dbSNP Id: rs17853657
• MyVariant Identifiers: chr17:g.48262879G>T (hg19) ; chr17:g.50185518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185518G>T , CM000679.2:g.50185518G>T	GRCh38
NC_000017.10:g.48262879G>T , CM000679.1:g.48262879G>T	GRCh37
NC_000017.9:g.45617878G>T	NCBI36
NG_007400.1:g.21122C>A , LRG_1:g.21122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4379C>A MANE Select	ENSP00000225964.6:p.Pro1460His
ENST00000225964.9:c.4379C>A	ENSP00000225964.5:p.Pro1460His
NM_000088.3:c.4379C>A , LRG_1t1:c.4379C>A	NP_000079.2:p.Pro1460His
XM_005257058.3:c.4109C>A	XP_005257115.2:p.Pro1370His
XM_005257059.3:c.3461C>A	XP_005257116.2:p.Pro1154His
XM_011524341.1:c.4181C>A	XP_011522643.1:p.Pro1394His
XM_005257058.4:c.4109C>A	XP_005257115.2:p.Pro1370His
XM_005257059.4:c.3461C>A	XP_005257116.2:p.Pro1154His
NM_000088.4:c.4379C>A MANE Select	NP_000079.2:p.Pro1460His