Canonical Allele Identifier: CA8644240

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 510768
• ClinVar RCV Id: RCV000606103 ; RCV003517244
• dbSNP Id: rs755763693
• ExAC: 17:48263205 G / A
• gnomAD v2: 17-48263205-G-A
• gnomAD v3: 17-50185844-G-A
• gnomAD v4: 17-50185844-G-A
• MyVariant Identifiers: chr17:g.48263205G>A (hg19) ; chr17:g.50185844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185844G>A , CM000679.2:g.50185844G>A	GRCh38
NC_000017.10:g.48263205G>A , CM000679.1:g.48263205G>A	GRCh37
NC_000017.9:g.45618204G>A	NCBI36
NG_007400.1:g.20796C>T , LRG_1:g.20796C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4182C>T MANE Select	ENSP00000225964.6:p.Asn1394=
ENST00000225964.9:c.4182C>T	ENSP00000225964.5:p.Asn1394=
ENST00000510710.3:n.1147C>T
NM_000088.3:c.4182C>T , LRG_1t1:c.4182C>T	NP_000079.2:p.Asn1394=
XM_005257058.3:c.3912C>T	XP_005257115.2:p.Asn1304=
XM_005257059.3:c.3264C>T	XP_005257116.2:p.Asn1088=
XM_011524341.1:c.3984C>T	XP_011522643.1:p.Asn1328=
XM_005257058.4:c.3912C>T	XP_005257115.2:p.Asn1304=
XM_005257059.4:c.3264C>T	XP_005257116.2:p.Asn1088=
NM_000088.4:c.4182C>T MANE Select	NP_000079.2:p.Asn1394=