Canonical Allele Identifier: CA8645023

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 517702
• ClinVar RCV Id: RCV000603235 ; RCV002413768 ; RCV002066833 ; RCV002279442 ; RCV002498987
• dbSNP Id: rs375695940
• ExAC: 17:48270043 G / A
• gnomAD v2: 17-48270043-G-A
• gnomAD v3: 17-50192682-G-A
• gnomAD v4: 17-50192682-G-A
• MyVariant Identifiers: chr17:g.48270043G>A (hg19) ; chr17:g.50192682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192682G>A , CM000679.2:g.50192682G>A	GRCh38
NC_000017.10:g.48270043G>A , CM000679.1:g.48270043G>A	GRCh37
NC_000017.9:g.45625042G>A	NCBI36
NG_007400.1:g.13958C>T , LRG_1:g.13958C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1887C>T MANE Select	ENSP00000225964.6:p.Gly629=
ENST00000225964.9:c.1887C>T	ENSP00000225964.5:p.Gly629=
ENST00000476387.1:n.236C>T
NM_000088.3:c.1887C>T , LRG_1t1:c.1887C>T	NP_000079.2:p.Gly629=
XM_005257058.3:c.1887C>T	XP_005257115.2:p.Gly629=
XM_005257059.3:c.969C>T	XP_005257116.2:p.Gly323=
XM_011524341.1:c.1689C>T	XP_011522643.1:p.Gly563=
XM_005257058.4:c.1887C>T	XP_005257115.2:p.Gly629=
XM_005257059.4:c.969C>T	XP_005257116.2:p.Gly323=
NM_000088.4:c.1887C>T MANE Select	NP_000079.2:p.Gly629=