Canonical Allele Identifier: CA400200495

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 456764
• ClinVar RCV Id: RCV000528176 ; RCV004553177
• dbSNP Id: rs1555572239
• MyVariant Identifiers: chr17:g.48265890C>G (hg19) ; chr17:g.50188529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188529C>G , CM000679.2:g.50188529C>G	GRCh38
NC_000017.10:g.48265890C>G , CM000679.1:g.48265890C>G	GRCh37
NC_000017.9:g.45620889C>G	NCBI36
NG_007400.1:g.18111G>C , LRG_1:g.18111G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207+1G>C MANE Select	ENSP00000225964.6:n.3207+1G>C
ENST00000225964.9:c.3207+1G>C	ENSP00000225964.5:n.3207+1G>C
ENST00000486572.1:n.26G>C
ENST00000511732.1:n.152G>C
NM_000088.3:c.3207+1G>C , LRG_1t1:c.3207+1G>C	NP_000079.2:n.3207+1G>C
XM_005257058.3:c.2937+1G>C	XP_005257115.2:n.2937+1G>C
XM_005257059.3:c.2289+1G>C	XP_005257116.2:n.2289+1G>C
XM_011524341.1:c.3009+1G>C	XP_011522643.1:n.3009+1G>C
XM_005257058.4:c.2937+1G>C	XP_005257115.2:n.2937+1G>C
XM_005257059.4:c.2289+1G>C	XP_005257116.2:n.2289+1G>C
NM_000088.4:c.3207+1G>C MANE Select	NP_000079.2:n.3207+1G>C