Canonical Allele Identifier: CA8644238

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 707290
• ClinVar RCV Id: RCV001477269 ; RCV002332850
• dbSNP Id: rs780908692
• ExAC: 17:48263199 G / A
• gnomAD v2: 17-48263199-G-A
• gnomAD v3: 17-50185838-G-A
• gnomAD v4: 17-50185838-G-A
• MyVariant Identifiers: chr17:g.48263199G>A (hg19) ; chr17:g.50185838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185838G>A , CM000679.2:g.50185838G>A	GRCh38
NC_000017.10:g.48263199G>A , CM000679.1:g.48263199G>A	GRCh37
NC_000017.9:g.45618198G>A	NCBI36
NG_007400.1:g.20802C>T , LRG_1:g.20802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4188C>T MANE Select	ENSP00000225964.6:p.Ile1396=
ENST00000225964.9:c.4188C>T	ENSP00000225964.5:p.Ile1396=
NM_000088.3:c.4188C>T , LRG_1t1:c.4188C>T	NP_000079.2:p.Ile1396=
XM_005257058.3:c.3918C>T	XP_005257115.2:p.Ile1306=
XM_005257059.3:c.3270C>T	XP_005257116.2:p.Ile1090=
XM_011524341.1:c.3990C>T	XP_011522643.1:p.Ile1330=
XM_005257058.4:c.3918C>T	XP_005257115.2:p.Ile1306=
XM_005257059.4:c.3270C>T	XP_005257116.2:p.Ile1090=
NM_000088.4:c.4188C>T MANE Select	NP_000079.2:p.Ile1396=