Canonical Allele Identifier: CA8645140

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1254370
• ClinVar RCV Id: RCV001653152 ; RCV002073054 ; RCV002405273
• dbSNP Id: rs578167693
• ExAC: 17:48271397 G / A
• gnomAD v2: 17-48271397-G-A
• gnomAD v3: 17-50194036-G-A
• gnomAD v4: 17-50194036-G-A
• MyVariant Identifiers: chr17:g.48271397G>A (hg19) ; chr17:g.50194036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194036G>A , CM000679.2:g.50194036G>A	GRCh38
NC_000017.10:g.48271397G>A , CM000679.1:g.48271397G>A	GRCh37
NC_000017.9:g.45626396G>A	NCBI36
NG_007400.1:g.12604C>T , LRG_1:g.12604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1674C>T MANE Select	ENSP00000225964.6:p.Pro558=
ENST00000225964.9:c.1674C>T	ENSP00000225964.5:p.Pro558=
ENST00000463440.1:n.64C>T
ENST00000471344.1:n.706C>T
ENST00000476387.1:n.23C>T
NM_000088.3:c.1674C>T , LRG_1t1:c.1674C>T	NP_000079.2:p.Pro558=
XM_005257058.3:c.1674C>T	XP_005257115.2:p.Pro558=
XM_005257059.3:c.958-1343C>T	XP_005257116.2:n.958-1343C>T
XM_011524341.1:c.1476C>T	XP_011522643.1:p.Pro492=
XM_005257058.4:c.1674C>T	XP_005257115.2:p.Pro558=
XM_005257059.4:c.958-1343C>T	XP_005257116.2:n.958-1343C>T
NM_000088.4:c.1674C>T MANE Select	NP_000079.2:p.Pro558=