Canonical Allele Identifier: CA8644244

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 456786
• ClinVar RCV Id: RCV000547370
• dbSNP Id: rs774210351
• ExAC: 17:48263209 G / A
• gnomAD v2: 17-48263209-G-A
• gnomAD v4: 17-50185848-G-A
• MyVariant Identifiers: chr17:g.48263209G>A (hg19) ; chr17:g.50185848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185848G>A , CM000679.2:g.50185848G>A	GRCh38
NC_000017.10:g.48263209G>A , CM000679.1:g.48263209G>A	GRCh37
NC_000017.9:g.45618208G>A	NCBI36
NG_007400.1:g.20792C>T , LRG_1:g.20792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4178C>T MANE Select	ENSP00000225964.6:p.Ser1393Phe
ENST00000225964.9:c.4178C>T	ENSP00000225964.5:p.Ser1393Phe
ENST00000510710.3:n.1143C>T
NM_000088.3:c.4178C>T , LRG_1t1:c.4178C>T	NP_000079.2:p.Ser1393Phe
XM_005257058.3:c.3908C>T	XP_005257115.2:p.Ser1303Phe
XM_005257059.3:c.3260C>T	XP_005257116.2:p.Ser1087Phe
XM_011524341.1:c.3980C>T	XP_011522643.1:p.Ser1327Phe
XM_005257058.4:c.3908C>T	XP_005257115.2:p.Ser1303Phe
XM_005257059.4:c.3260C>T	XP_005257116.2:p.Ser1087Phe
NM_000088.4:c.4178C>T MANE Select	NP_000079.2:p.Ser1393Phe