Canonical Allele Identifier: CA260305

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 35918
• ClinVar RCV Id: RCV000537025 ; RCV000607797 ; RCV000608881 ; RCV000680480 ; RCV001125487 ; RCV002433474 ; RCV001125486 ; RCV001125488 ; RCV001535421 ; RCV002276575
• dbSNP Id: rs193922153
• ExAC: 17:48266534 G / A
• gnomAD v2: 17-48266534-G-A
• gnomAD v3: 17-50189173-G-A
• gnomAD v4: 17-50189173-G-A
• COSMIC: COSM3519028
• MyVariant Identifiers: chr17:g.48266534G>A (hg19) ; chr17:g.50189173G>A (hg38)
• PubMed: PMID:16786509

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189173G>A , CM000679.2:g.50189173G>A	GRCh38
NC_000017.10:g.48266534G>A , CM000679.1:g.48266534G>A	GRCh37
NC_000017.9:g.45621533G>A	NCBI36
NG_007400.1:g.17467C>T , LRG_1:g.17467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2932C>T MANE Select	ENSP00000225964.6:p.Pro978Ser
ENST00000225964.9:c.2932C>T	ENSP00000225964.5:p.Pro978Ser
NM_000088.3:c.2932C>T , LRG_1t1:c.2932C>T	NP_000079.2:p.Pro978Ser
XM_005257058.3:c.2668-163C>T	XP_005257115.2:n.2668-163C>T
XM_005257059.3:c.2014C>T	XP_005257116.2:p.Pro672Ser
XM_011524341.1:c.2734C>T	XP_011522643.1:p.Pro912Ser
XM_005257058.4:c.2668-163C>T	XP_005257115.2:n.2668-163C>T
XM_005257059.4:c.2014C>T	XP_005257116.2:p.Pro672Ser
NM_000088.4:c.2932C>T MANE Select	NP_000079.2:p.Pro978Ser