Canonical Allele Identifier: CA8644787

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324108
• ClinVar RCV Id: RCV000268773 ; RCV000315437 ; RCV000363370 ; RCV000438177 ; RCV001087908 ; RCV002278494 ; RCV002446584 ; RCV004549711
• dbSNP Id: rs1800214
• ExAC: 17:48267454 G / C
• gnomAD v2: 17-48267454-G-C
• gnomAD v3: 17-50190093-G-C
• gnomAD v4: 17-50190093-G-C
• MyVariant Identifiers: chr17:g.48267454G>C (hg19) ; chr17:g.50190093G>C (hg38)
• PubMed: PMID:6876111 ; PMID:9295084 ; PMID:10073586 ; PMID:10739762 ; PMID:13431894 ; PMID:15864348 ; PMID:17078022 ; PMID:20087402 ; PMID:21344539 ; PMID:21801164 ; PMID:22174522 ; PMID:22570641 ; PMID:23047998 ; PMID:23522764 ; PMID:23735642 ; PMID:24389367 ; PMID:24715559 ; PMID:24891183 ; PMID:24964776 ; PMID:28668235

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190093G>C , CM000679.2:g.50190093G>C	GRCh38
NC_000017.10:g.48267454G>C , CM000679.1:g.48267454G>C	GRCh37
NC_000017.9:g.45622453G>C	NCBI36
NG_007400.1:g.16547C>G , LRG_1:g.16547C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2467C>G MANE Select	ENSP00000225964.6:p.Pro823Ala
ENST00000225964.9:c.2467C>G	ENSP00000225964.5:p.Pro823Ala
NM_000088.3:c.2467C>G , LRG_1t1:c.2467C>G	NP_000079.2:p.Pro823Ala
XM_005257058.3:c.2467C>G	XP_005257115.2:p.Pro823Ala
XM_005257059.3:c.1549C>G	XP_005257116.2:p.Pro517Ala
XM_011524341.1:c.2269C>G	XP_011522643.1:p.Pro757Ala
XM_005257058.4:c.2467C>G	XP_005257115.2:p.Pro823Ala
XM_005257059.4:c.1549C>G	XP_005257116.2:p.Pro517Ala
NM_000088.4:c.2467C>G MANE Select	NP_000079.2:p.Pro823Ala