Canonical Allele Identifier: CA8645424

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1676371
• ClinVar RCV Id: RCV002221753 ; RCV003120837
• dbSNP Id: rs372658559
• ExAC: 17:48273303 G / A
• gnomAD v2: 17-48273303-G-A
• gnomAD v3: 17-50195942-G-A
• gnomAD v4: 17-50195942-G-A
• MyVariant Identifiers: chr17:g.48273303G>A (hg19) ; chr17:g.50195942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195942G>A , CM000679.2:g.50195942G>A	GRCh38
NC_000017.10:g.48273303G>A , CM000679.1:g.48273303G>A	GRCh37
NC_000017.9:g.45628302G>A	NCBI36
NG_007400.1:g.10698C>T , LRG_1:g.10698C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1037C>T MANE Select	ENSP00000225964.6:p.Pro346Leu
ENST00000225964.9:c.1037C>T	ENSP00000225964.5:p.Pro346Leu
NM_000088.3:c.1037C>T , LRG_1t1:c.1037C>T	NP_000079.2:p.Pro346Leu
XM_005257058.3:c.1037C>T	XP_005257115.2:p.Pro346Leu
XM_005257059.3:c.957+372C>T	XP_005257116.2:n.957+372C>T
XM_011524341.1:c.957+372C>T	XP_011522643.1:n.957+372C>T
XM_005257058.4:c.1037C>T	XP_005257115.2:p.Pro346Leu
XM_005257059.4:c.957+372C>T	XP_005257116.2:n.957+372C>T
NM_000088.4:c.1037C>T MANE Select	NP_000079.2:p.Pro346Leu