Canonical Allele Identifier: CA400213731

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2959870
• ClinVar RCV Id: RCV003812045
• dbSNP Id: rs886053161
• gnomAD v3: 17-50192659-G-T
• gnomAD v4: 17-50192659-G-T
• MyVariant Identifiers: chr17:g.48270020G>T (hg19) ; chr17:g.50192659G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192659G>T , CM000679.2:g.50192659G>T	GRCh38
NC_000017.10:g.48270020G>T , CM000679.1:g.48270020G>T	GRCh37
NC_000017.9:g.45625019G>T	NCBI36
NG_007400.1:g.13981C>A , LRG_1:g.13981C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1910C>A MANE Select	ENSP00000225964.6:p.Ala637Asp
ENST00000225964.9:c.1910C>A	ENSP00000225964.5:p.Ala637Asp
ENST00000476387.1:n.259C>A
NM_000088.3:c.1910C>A , LRG_1t1:c.1910C>A	NP_000079.2:p.Ala637Asp
XM_005257058.3:c.1910C>A	XP_005257115.2:p.Ala637Asp
XM_005257059.3:c.992C>A	XP_005257116.2:p.Ala331Asp
XM_011524341.1:c.1712C>A	XP_011522643.1:p.Ala571Asp
XM_005257058.4:c.1910C>A	XP_005257115.2:p.Ala637Asp
XM_005257059.4:c.992C>A	XP_005257116.2:p.Ala331Asp
NM_000088.4:c.1910C>A MANE Select	NP_000079.2:p.Ala637Asp