Canonical Allele Identifier: CA8644692
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50189463G>A
GRCh37 chr17:g.48266824G>A
Revel Score:
ENST00000225964 (MANE Select) 0.687
gnomAD v2:
17:48266824 G / A
gnomAD v3:
17:50189463 G / A
gnomAD v4:
chr17-50189463-G-A
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.00000806 (AFR)
Exomes Max Group AF 0.00000531 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50189463G>A , CM000679.2:g.50189463G>A GRCh38
NC_000017.10:g.48266824G>A , CM000679.1:g.48266824G>A GRCh37
NC_000017.9:g.45621823G>A NCBI36
NG_007400.1:g.17177C>T , LRG_1:g.17177C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2743C>T MANE Select ENSP00000225964.6:p.Pro915Ser
ENST00000225964.9:c.2743C>T ENSP00000225964.5:p.Pro915Ser
NM_000088.3:c.2743C>T , LRG_1t1:c.2743C>T NP_000079.2:p.Pro915Ser
XM_005257058.3:c.2667+216C>T XP_005257115.2:n.2667+216C>T
XM_005257059.3:c.1825C>T XP_005257116.2:p.Pro609Ser
XM_011524341.1:c.2545C>T XP_011522643.1:p.Pro849Ser
XM_005257058.4:c.2667+216C>T XP_005257115.2:n.2667+216C>T
XM_005257059.4:c.1825C>T XP_005257116.2:p.Pro609Ser
NM_000088.4:c.2743C>T MANE Select NP_000079.2:p.Pro915Ser
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