Canonical Allele Identifier: CA626485781

Gene: COL1A1

Linked Data

• dbSNP Id: rs1354277173
• gnomAD v2: 17-48265850-T-C
• MyVariant Identifiers: chr17:g.48265850T>C (hg19) ; chr17:g.50188489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188489T>C , CM000679.2:g.50188489T>C	GRCh38
NC_000017.10:g.48265850T>C , CM000679.1:g.48265850T>C	GRCh37
NC_000017.9:g.45620849T>C	NCBI36
NG_007400.1:g.18151A>G , LRG_1:g.18151A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+41A>G MANE Select	ENSP00000225964.6:n.3207+41A>G
ENST00000225964.9:c.3207+41A>G	ENSP00000225964.5:n.3207+41A>G
ENST00000486572.1:n.66A>G
ENST00000511732.1:n.192A>G
NM_000088.3:c.3207+41A>G , LRG_1t1:c.3207+41A>G	NP_000079.2:n.3207+41A>G
XM_005257058.3:c.2937+41A>G	XP_005257115.2:n.2937+41A>G
XM_005257059.3:c.2289+41A>G	XP_005257116.2:n.2289+41A>G
XM_011524341.1:c.3009+41A>G	XP_011522643.1:n.3009+41A>G
XM_005257058.4:c.2937+41A>G	XP_005257115.2:n.2937+41A>G
XM_005257059.4:c.2289+41A>G	XP_005257116.2:n.2289+41A>G
NM_000088.4:c.3207+41A>G MANE Select	NP_000079.2:n.3207+41A>G