Canonical Allele Identifier: CA8644160

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324094
• ClinVar RCV Id: RCV000279151 ; RCV000342367 ; RCV000373598
• dbSNP Id: rs201085309
• ExAC: 17:48262842 C / G
• gnomAD v2: 17-48262842-C-G
• gnomAD v3: 17-50185481-C-G
• gnomAD v4: 17-50185481-C-G
• MyVariant Identifiers: chr17:g.48262842C>G (hg19) ; chr17:g.50185481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185481C>G , CM000679.2:g.50185481C>G	GRCh38
NC_000017.10:g.48262842C>G , CM000679.1:g.48262842C>G	GRCh37
NC_000017.9:g.45617841C>G	NCBI36
NG_007400.1:g.21159G>C , LRG_1:g.21159G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*21G>C MANE Select	ENSP00000225964.6:n.*21G>C
ENST00000225964.9:c.*21G>C	ENSP00000225964.5:n.*21G>C
NM_000088.3:c.*21G>C , LRG_1t1:c.*21G>C	NP_000079.2:n.*21G>C
XM_005257058.3:c.*21G>C	XP_005257115.2:n.*21G>C
XM_005257059.3:c.*21G>C	XP_005257116.2:n.*21G>C
XM_011524341.1:c.*21G>C	XP_011522643.1:n.*21G>C
XM_005257058.4:c.*21G>C	XP_005257115.2:n.*21G>C
XM_005257059.4:c.*21G>C	XP_005257116.2:n.*21G>C
NM_000088.4:c.*21G>C MANE Select	NP_000079.2:n.*21G>C