Canonical Allele Identifier: CA8644175

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 514301
• ClinVar RCV Id: RCV000601428
• dbSNP Id: rs758524007
• ExAC: 17:48262896 G / A
• gnomAD v2: 17-48262896-G-A
• gnomAD v4: 17-50185535-G-A
• COSMIC: COSM260212
• MyVariant Identifiers: chr17:g.48262896G>A (hg19) ; chr17:g.50185535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185535G>A , CM000679.2:g.50185535G>A	GRCh38
NC_000017.10:g.48262896G>A , CM000679.1:g.48262896G>A	GRCh37
NC_000017.9:g.45617895G>A	NCBI36
NG_007400.1:g.21105C>T , LRG_1:g.21105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4362C>T MANE Select	ENSP00000225964.6:p.Phe1454=
ENST00000225964.9:c.4362C>T	ENSP00000225964.5:p.Phe1454=
NM_000088.3:c.4362C>T , LRG_1t1:c.4362C>T	NP_000079.2:p.Phe1454=
XM_005257058.3:c.4092C>T	XP_005257115.2:p.Phe1364=
XM_005257059.3:c.3444C>T	XP_005257116.2:p.Phe1148=
XM_011524341.1:c.4164C>T	XP_011522643.1:p.Phe1388=
XM_005257058.4:c.4092C>T	XP_005257115.2:p.Phe1364=
XM_005257059.4:c.3444C>T	XP_005257116.2:p.Phe1148=
NM_000088.4:c.4362C>T MANE Select	NP_000079.2:p.Phe1454=